Disease Name: Becker Muscular Dystrophy
>sp|P11532|DMD_HUMAN Dystrophin OS=Homo sapiens OX=9606 GN=DMD PE=1 SV=3
MLWWEEVEDCYEREDVQKKTFTKWVNAQFSKFGKQHIENLFSDLQDGRRLLDLLEGLTGQ
KLPKEKGSTRVHALNNVNKALRVLQNNNVDLVNIGSTDIVDGNHKLTLGLIWNIILHWQV
KNVMKNIMAGLQQTNSEKILLSWVRQSTRNYPQVNVINFTTSWSDGLALNALIHSHRPDL
FDWNSVVCQQSATQRLEHAFNIARYQLGIEKLLDPEDVDTTYPDKKSILMYITSLFQVLP
QQVSIEAIQEVEMLPRPPKVTKEEHFQLHHQMHYSQQITVSLAQGYERTSSPKPRFKSYA
YTQAAYVTTSDPTRSPFPSQHLEAPEDKSFGSSLMESEVNLDRYQTALEEVLSWLLSAED
TLQAQGEISNDVEVVKDQFHTHEGYMMDLTAHQGRVGNILQLGSKLIGTGKLSEDEETEV
QEQMNLLNSRWECLRVASMEKQSNLHRVLMDLQNQKLKELNDWLTKTEERTRKMEEEPLG
PDLEDLKRQVQQHKVLQEDLEQEQVRVNSLTHMVVVVDESSGDHATAALEEQLKVLGDRW
ANICRWTEDRWVLLQDILLKWQRLTEEQCLFSAWLSEKEDAVNKIHTTGFKDQNEMLSSL
QKLAVLKADLEKKKQSMGKLYSLKQDLLSTLKNKSVTQKTEAWLDNFARCWDNLVQKLEK
STAQISQAVTTTQPSLTQTTVMETVTTVTTREQILVKHAQEELPPPPPQKKRQITVDSEI
RKRLDVDITELHSWITRSEAVLQSPEFAIFRKEGNFSDLKEKVNAIEREKAEKFRKLQDA
SRSAQALVEQMVNEGVNADSIKQASEQLNSRWIEFCQLLSERLNWLEYQNNIIAFYNQLQ
QLEQMTTTAENWLKIQPTTPSEPTAIKSQLKICKDEVNRLSDLQPQIERLKIQSIALKEK
GQGPMFLDADFVAFTNHFKQVFSDVQAREKELQTIFDTLPPMRYQETMSAIRTWVQQSET
KLSIPQLSVTDYEIMEQRLGELQALQSSLQEQQSGLYYLSTTVKEMSKKAPSEISRKYQS
EFEEIEGRWKKLSSQLVEHCQKLEEQMNKLRKIQNHIQTLKKWMAEVDVFLKEEWPALGD
SEILKKQLKQCRLLVSDIQTIQPSLNSVNEGGQKIKNEAEPEFASRLETELKELNTQWDH
MCQQVYARKEALKGGLEKTVSLQKDLSEMHEWMTQAEEEYLERDFEYKTPDELQKAVEEM
KRAKEEAQQKEAKVKLLTESVNSVIAQAPPVAQEALKKELETLTTNYQWLCTRLNGKCKT
LEEVWACWHELLSYLEKANKWLNEVEFKLKTTENIPGGAEEISEVLDSLENLMRHSEDNP
NQIRILAQTLTDGGVMDELINEELETFNSRWRELHEEAVRRQKLLEQSIQSAQETEKSLH
LIQESLTFIDKQLAAYIADKVDAAQMPQEAQKIQSDLTSHEISLEEMKKHNQGKEAAQRV
LSQIDVAQKKLQDVSMKFRLFQKPANFEQRLQESKMILDEVKMHLPALETKSVEQEVVQS
QLNHCVNLYKSLSEVKSEVEMVIKTGRQIVQKKQTENPKELDERVTALKLHYNELGAKVT
ERKQQLEKCLKLSRKMRKEMNVLTEWLAATDMELTKRSAVEGMPSNLDSEVAWGKATQKE
IEKQKVHLKSITEVGEALKTVLGKKETLVEDKLSLLNSNWIAVTSRAEEWLNLLLEYQKH
METFDQNVDHITKWIIQADTLLDESEKKKPQQKEDVLKRLKAELNDIRPKVDSTRDQAAN
LMANRGDHCRKLVEPQISELNHRFAAISHRIKTGKASIPLKELEQFNSDIQKLLEPLEAE
IQQGVNLKEEDFNKDMNEDNEGTVKELLQRGDNLQQRITDERKREEIKIKQQLLQTKHNA
LKDLRSQRRKKALEISHQWYQYKRQADDLLKCLDDIEKKLASLPEPRDERKIKEIDRELQ
KKKEELNAVRRQAEGLSEDGAAMAVEPTQIQLSKRWREIESKFAQFRRLNFAQIHTVREE
TMMVMTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPDLCAKDFEDLFKQEESLKN
IKDSLQQSSGRIDIIHSKKTAALQSATPVERVKLQEALSQLDFQWEKVNKMYKDRQGRFD
RSVEKWRRFHYDIKIFNQWLTEAEQFLRKTQIPENWEHAKYKWYLKELQDGIGQRQTVVR
TLNATGEEIIQQSSKTDASILQEKLGSLNLRWQEVCKQLSDRKKRLEEQKNILSEFQRDL
NEFVLWLEEADNIASIPLEPGKEQQLKEKLEQVKLLVEELPLRQGILKQLNETGGPVLVS
APISPEEQDKLENKLKQTNLQWIKVSRALPEKQGEIEAQIKDLGQLEKKLEDLEEQLNHL
LLWLSPIRNQLEIYNQPNQEGPFDVKETEIAVQAKQPDVEEILSKGQHLYKEKPATQPVK
RKLEDLSSEWKAVNRLLQELRAKQPDLAPGLTTIGASPTQTVTLVTQPVVTKETAISKLE
MPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLEDINEMIIKQKATMQDL
EQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWDEVQEHLQNRRQQLNEMLK
DSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKITETKQLAKDLRQWQTNVDVA
NDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVSEREAALEETHRLLQQFPLDLEK
FLAWLTEAETTANVLQDATRKERLLEDSKGVKELMKQWQDLQGEIEAHTDVYHNLDENSQ
KILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSLNIRSHLEASSDQWKRLHLSLQELLVW
LQLKDDELSRQAPIGGDFPAVQKQNDVHRAFKRELKTKEPVIMSTLETVRIFLTEQPLEG
LEKLYQEPRELPPEERAQNVTRLLRKQAEEVNTEWEKLNLHSADWQRKIDETLERLQELQ
EATDELDLKLRQAEVIKGSWQPVGDLLIDSLQDHLEKVKALRGEIAPLKENVSHVNDLAR
QLTTLGIQLSPYNLSTLEDLNTRWKLLQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGP
WERAISPNKVPYYINHETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALC
LDLLSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLN
WLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHD
SIQIPRQLGEVASFGGSNIEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHR
VAAAETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYC
TPTTSGEDVRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDS
APASSPQLSHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLN
QDSPLSQPRSPAQILISLESEERGELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLP
SPPEMMPTSPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQP
QAEAKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVM
EQLNNSFPSSRGRNTPGKPMREDTM
>NM_000109.3 Homo sapiens dystrophin (DMD), transcript variant Dp427c, mRNA
CGTTAAATGCAAACGCTGCTCTGGCTCATGTGTTTGCTCCGAGGTATAGGTTTTGTTCGACTGACGTATC
AGATAGTCAGAGTGGTTACCACACCGACGTTGTAGCAGCTGCATAATAAATGACTGAAAGAATCATGTTA
GGCATGCCCACCTAACCTAACTTGAATCATGCGAAAGGGGAGCTGTTGGAATTCAAATAGACTTTCTGGT
TCCCAGCAGTCGGCAGTAATAGAATGCTTTCAGGAAGATGACAGAATCAGGAGAAAGATGCTGTTTTGCA
CTATCTTGATTTGTTACAGCAGCCAACTTATTGGCATGATGGAGTGACAGGAAAAACAGCTGGCATGGAA
GATGAAAGAGAAGATGTTCAAAAGAAAACATTCACAAAATGGGTAAATGCACAATTTTCTAAGTTTGGGA
AGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCT
GACAGGGCAAAAACTGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCA
CTGCGGGTTTTGCAGAACAATAATGTTGATTTAGTGAATATTGGAAGTACTGACATCGTAGATGGAAATC
ATAAACTGACTCTTGGTTTGATTTGGAATATAATCCTCCACTGGCAGGTCAAAAATGTAATGAAAAATAT
CATGGCTGGATTGCAACAAACCAACAGTGAAAAGATTCTCCTGAGCTGGGTCCGACAATCAACTCGTAAT
TATCCACAGGTTAATGTAATCAACTTCACCACCAGCTGGTCTGATGGCCTGGCTTTGAATGCTCTCATCC
ATAGTCATAGGCCAGACCTATTTGACTGGAATAGTGTGGTTTGCCAGCAGTCAGCCACACAACGACTGGA
ACATGCATTCAACATCGCCAGATATCAATTAGGCATAGAGAAACTACTCGATCCTGAAGATGTTGATACC
ACCTATCCAGATAAGAAGTCCATCTTAATGTACATCACATCACTCTTCCAAGTTTTGCCTCAACAAGTGA
GCATTGAAGCCATCCAGGAAGTGGAAATGTTGCCAAGGCCACCTAAAGTGACTAAAGAAGAACATTTTCA
GTTACATCATCAAATGCACTATTCTCAACAGATCACGGTCAGTCTAGCACAGGGATATGAGAGAACTTCT
TCCCCTAAGCCTCGATTCAAGAGCTATGCCTACACACAGGCTGCTTATGTCACCACCTCTGACCCTACAC
GGAGCCCATTTCCTTCACAGCATTTGGAAGCTCCTGAAGACAAGTCATTTGGCAGTTCATTGATGGAGAG
TGAAGTAAACCTGGACCGTTATCAAACAGCTTTAGAAGAAGTATTATCGTGGCTTCTTTCTGCTGAGGAC
ACATTGCAAGCACAAGGAGAGATTTCTAATGATGTGGAAGTGGTGAAAGACCAGTTTCATACTCATGAGG
GGTACATGATGGATTTGACAGCCCATCAGGGCCGGGTTGGTAATATTCTACAATTGGGAAGTAAGCTGAT
TGGAACAGGAAAATTATCAGAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGA
TGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAATTTACATAGAGTTTTAATGGATCTCCAGA
ATCAGAAACTGAAAGAGTTGAATGACTGGCTAACAAAAACAGAAGAAAGAACAAGGAAAATGGAGGAAGA
GCCTCTTGGACCTGATCTTGAAGACCTAAAACGCCAAGTACAACAACATAAGGTGCTTCAAGAAGATCTA
GAACAAGAACAAGTCAGGGTCAATTCTCTCACTCACATGGTGGTGGTAGTTGATGAATCTAGTGGAGATC
ACGCAACTGCTGCTTTGGAAGAACAACTTAAGGTATTGGGAGATCGATGGGCAAACATCTGTAGATGGAC
AGAAGACCGCTGGGTTCTTTTACAAGACATCCTTCTCAAATGGCAACGTCTTACTGAAGAACAGTGCCTT
TTTAGTGCATGGCTTTCAGAAAAAGAAGATGCAGTGAACAAGATTCACACAACTGGCTTTAAAGATCAAA
ATGAAATGTTATCAAGTCTTCAAAAACTGGCCGTTTTAAAAGCGGATCTAGAAAAGAAAAAGCAATCCAT
GGGCAAACTGTATTCACTCAAACAAGATCTTCTTTCAACACTGAAGAATAAGTCAGTGACCCAGAAGACG
GAAGCATGGCTGGATAACTTTGCCCGGTGTTGGGATAATTTAGTCCAAAAACTTGAAAAGAGTACAGCAC
AGATTTCACAGGCTGTCACCACCACTCAGCCATCACTAACACAGACAACTGTAATGGAAACAGTAACTAC
GGTGACCACAAGGGAACAGATCCTGGTAAAGCATGCTCAAGAGGAACTTCCACCACCACCTCCCCAAAAG
AAGAGGCAGATTACTGTGGATTCTGAAATTAGGAAAAGGTTGGATGTTGATATAACTGAACTTCACAGCT
GGATTACTCGCTCAGAAGCTGTGTTGCAGAGTCCTGAATTTGCAATCTTTCGGAAGGAAGGCAACTTCTC
AGACTTAAAAGAAAAAGTCAATGCCATAGAGCGAGAAAAAGCTGAGAAGTTCAGAAAACTGCAAGATGCC
AGCAGATCAGCTCAGGCCCTGGTGGAACAGATGGTGAATGAGGGTGTTAATGCAGATAGCATCAAACAAG
CCTCAGAACAACTGAACAGCCGGTGGATCGAATTCTGCCAGTTGCTAAGTGAGAGACTTAACTGGCTGGA
GTATCAGAACAACATCATCGCTTTCTATAATCAGCTACAACAATTGGAGCAGATGACAACTACTGCTGAA
AACTGGTTGAAAATCCAACCCACCACCCCATCAGAGCCAACAGCAATTAAAAGTCAGTTAAAAATTTGTA
AGGATGAAGTCAACCGGCTATCAGGTCTTCAACCTCAAATTGAACGATTAAAAATTCAAAGCATAGCCCT
GAAAGAGAAAGGACAAGGACCCATGTTCCTGGATGCAGACTTTGTGGCCTTTACAAATCATTTTAAGCAA
GTCTTTTCTGATGTGCAGGCCAGAGAGAAAGAGCTACAGACAATTTTTGACACTTTGCCACCAATGCGCT
ATCAGGAGACCATGAGTGCCATCAGGACATGGGTCCAGCAGTCAGAAACCAAACTCTCCATACCTCAACT
TAGTGTCACCGACTATGAAATCATGGAGCAGAGACTCGGGGAATTGCAGGCTTTACAAAGTTCTCTGCAA
GAGCAACAAAGTGGCCTATACTATCTCAGCACCACTGTGAAAGAGATGTCGAAGAAAGCGCCCTCTGAAA
TTAGCCGGAAATATCAATCAGAATTTGAAGAAATTGAGGGACGCTGGAAGAAGCTCTCCTCCCAGCTGGT
TGAGCATTGTCAAAAGCTAGAGGAGCAAATGAATAAACTCCGAAAAATTCAGAATCACATACAAACCCTG
AAGAAATGGATGGCTGAAGTTGATGTTTTTCTGAAGGAGGAATGGCCTGCCCTTGGGGATTCAGAAATTC
TAAAAAAGCAGCTGAAACAGTGCAGACTTTTAGTCAGTGATATTCAGACAATTCAGCCCAGTCTAAACAG
TGTCAATGAAGGTGGGCAGAAGATAAAGAATGAAGCAGAGCCAGAGTTTGCTTCGAGACTTGAGACAGAA
CTCAAAGAACTTAACACTCAGTGGGATCACATGTGCCAACAGGTCTATGCCAGAAAGGAGGCCTTGAAGG
GAGGTTTGGAGAAAACTGTAAGCCTCCAGAAAGATCTATCAGAGATGCACGAATGGATGACACAAGCTGA
AGAAGAGTATCTTGAGAGAGATTTTGAATATAAAACTCCAGATGAATTACAGAAAGCAGTTGAAGAGATG
AAGAGAGCTAAAGAAGAGGCCCAACAAAAAGAAGCGAAAGTGAAACTCCTTACTGAGTCTGTAAATAGTG
TCATAGCTCAAGCTCCACCTGTAGCACAAGAGGCCTTAAAAAAGGAACTTGAAACTCTAACCACCAACTA
CCAGTGGCTCTGCACTAGGCTGAATGGGAAATGCAAGACTTTGGAAGAAGTTTGGGCATGTTGGCATGAG
TTATTGTCATACTTGGAGAAAGCAAACAAGTGGCTAAATGAAGTAGAATTTAAACTTAAAACCACTGAAA
ACATTCCTGGCGGAGCTGAGGAAATCTCTGAGGTGCTAGATTCACTTGAAAATTTGATGCGACATTCAGA
GGATAACCCAAATCAGATTCGCATATTGGCACAGACCCTAACAGATGGCGGAGTCATGGATGAGCTAATC
AATGAGGAACTTGAGACATTTAATTCTCGTTGGAGGGAACTACATGAAGAGGCTGTAAGGAGGCAAAAGT
TGCTTGAACAGAGCATCCAGTCTGCCCAGGAGACTGAAAAATCCTTACACTTAATCCAGGAGTCCCTCAC
ATTCATTGACAAGCAGTTGGCAGCTTATATTGCAGACAAGGTGGACGCAGCTCAAATGCCTCAGGAAGCC
CAGAAAATCCAATCTGATTTGACAAGTCATGAGATCAGTTTAGAAGAAATGAAGAAACATAATCAGGGGA
AGGAGGCTGCCCAAAGAGTCCTGTCTCAGATTGATGTTGCACAGAAAAAATTACAAGATGTCTCCATGAA
GTTTCGATTATTCCAGAAACCAGCCAATTTTGAGCAGCGTCTACAAGAAAGTAAGATGATTTTAGATGAA
GTGAAGATGCACTTGCCTGCATTGGAAACAAAGAGTGTGGAACAGGAAGTAGTACAGTCACAGCTAAATC
ATTGTGTGAACTTGTATAAAAGTCTGAGTGAAGTGAAGTCTGAAGTGGAAATGGTGATAAAGACTGGACG
TCAGATTGTACAGAAAAAGCAGACGGAAAATCCCAAAGAACTTGATGAAAGAGTAACAGCTTTGAAATTG
CATTATAATGAGCTGGGAGCAAAGGTAACAGAAAGAAAGCAACAGTTGGAGAAATGCTTGAAATTGTCCC
GTAAGATGCGAAAGGAAATGAATGTCTTGACAGAATGGCTGGCAGCTACAGATATGGAATTGACAAAGAG
ATCAGCAGTTGAAGGAATGCCTAGTAATTTGGATTCTGAAGTTGCCTGGGGAAAGGCTACTCAAAAAGAG
ATTGAGAAACAGAAGGTGCACCTGAAGAGTATCACAGAGGTAGGAGAGGCCTTGAAAACAGTTTTGGGCA
AGAAGGAGACGTTGGTGGAAGATAAACTCAGTCTTCTGAATAGTAACTGGATAGCTGTCACCTCCCGAGC
AGAAGAGTGGTTAAATCTTTTGTTGGAATACCAGAAACACATGGAAACTTTTGACCAGAATGTGGACCAC
ATCACAAAGTGGATCATTCAGGCTGACACACTTTTGGATGAATCAGAGAAAAAGAAACCCCAGCAAAAAG
AAGACGTGCTTAAGCGTTTAAAGGCAGAACTGAATGACATACGCCCAAAGGTGGACTCTACACGTGACCA
AGCAGCAAACTTGATGGCAAACCGCGGTGACCACTGCAGGAAATTAGTAGAGCCCCAAATCTCAGAGCTC
AACCATCGATTTGCAGCCATTTCACACAGAATTAAGACTGGAAAGGCCTCCATTCCTTTGAAGGAATTGG
AGCAGTTTAACTCAGATATACAAAAATTGCTTGAACCACTGGAGGCTGAAATTCAGCAGGGGGTGAATCT
GAAAGAGGAAGACTTCAATAAAGATATGAATGAAGACAATGAGGGTACTGTAAAAGAATTGTTGCAAAGA
GGAGACAACTTACAACAAAGAATCACAGATGAGAGAAAGCGAGAGGAAATAAAGATAAAACAGCAGCTGT
TACAGACAAAACATAATGCTCTCAAGGATTTGAGGTCTCAAAGAAGAAAAAAGGCTCTAGAAATTTCTCA
TCAGTGGTATCAGTACAAGAGGCAGGCTGATGATCTCCTGAAATGCTTGGATGACATTGAAAAAAAATTA
GCCAGCCTACCTGAGCCCAGAGATGAAAGGAAAATAAAGGAAATTGATCGGGAATTGCAGAAGAAGAAAG
AGGAGCTGAATGCAGTGCGTAGGCAAGCTGAGGGCTTGTCTGAGGATGGGGCCGCAATGGCAGTGGAGCC
AACTCAGATCCAGCTCAGCAAGCGCTGGCGGGAAATTGAGAGCAAATTTGCTCAGTTTCGAAGACTCAAC
TTTGCACAAATTCACACTGTCCGTGAAGAAACGATGATGGTGATGACTGAAGACATGCCTTTGGAAATTT
CTTATGTGCCTTCTACTTATTTGACTGAAATCACTCATGTCTCACAAGCCCTATTAGAAGTGGAACAACT
TCTCAATGCTCCTGACCTCTGTGCTAAGGACTTTGAAGATCTCTTTAAGCAAGAGGAGTCTCTGAAGAAT
ATAAAAGATAGTCTACAACAAAGCTCAGGTCGGATTGACATTATTCATAGCAAGAAGACAGCAGCATTGC
AAAGTGCAACGCCTGTGGAAAGGGTGAAGCTACAGGAAGCTCTCTCCCAGCTTGATTTCCAATGGGAAAA
AGTTAACAAAATGTACAAGGACCGACAAGGGCGATTTGACAGATCTGTTGAGAAATGGCGGCGTTTTCAT
TATGATATAAAGATATTTAATCAGTGGCTAACAGAAGCTGAACAGTTTCTCAGAAAGACACAAATTCCTG
AGAATTGGGAACATGCTAAATACAAATGGTATCTTAAGGAACTCCAGGATGGCATTGGGCAGCGGCAAAC
TGTTGTCAGAACATTGAATGCAACTGGGGAAGAAATAATTCAGCAATCCTCAAAAACAGATGCCAGTATT
CTACAGGAAAAATTGGGAAGCCTGAATCTGCGGTGGCAGGAGGTCTGCAAACAGCTGTCAGACAGAAAAA
AGAGGCTAGAAGAACAAAAGAATATCTTGTCAGAATTTCAAAGAGATTTAAATGAATTTGTTTTATGGTT
GGAGGAAGCAGATAACATTGCTAGTATCCCACTTGAACCTGGAAAAGAGCAGCAACTAAAAGAAAAGCTT
GAGCAAGTCAAGTTACTGGTGGAAGAGTTGCCCCTGCGCCAGGGAATTCTCAAACAATTAAATGAAACTG
GAGGACCCGTGCTTGTAAGTGCTCCCATAAGCCCAGAAGAGCAAGATAAACTTGAAAATAAGCTCAAGCA
GACAAATCTCCAGTGGATAAAGGTTTCCAGAGCTTTACCTGAGAAACAAGGAGAAATTGAAGCTCAAATA
AAAGACCTTGGGCAGCTTGAAAAAAAGCTTGAAGACCTTGAAGAGCAGTTAAATCATCTGCTGCTGTGGT
TATCTCCTATTAGGAATCAGTTGGAAATTTATAACCAACCAAACCAAGAAGGACCATTTGACGTTCAGGA
AACTGAAATAGCAGTTCAAGCTAAACAACCGGATGTGGAAGAGATTTTGTCTAAAGGGCAGCATTTGTAC
AAGGAAAAACCAGCCACTCAGCCAGTGAAGAGGAAGTTAGAAGATCTGAGCTCTGAGTGGAAGGCGGTAA
ACCGTTTACTTCAAGAGCTGAGGGCAAAGCAGCCTGACCTAGCTCCTGGACTGACCACTATTGGAGCCTC
TCCTACTCAGACTGTTACTCTGGTGACACAACCTGTGGTTACTAAGGAAACTGCCATCTCCAAACTAGAA
ATGCCATCTTCCTTGATGTTGGAGGTACCTGCTCTGGCAGATTTCAACCGGGCTTGGACAGAACTTACCG
ACTGGCTTTCTCTGCTTGATCAAGTTATAAAATCACAGAGGGTGATGGTGGGTGACCTTGAGGATATCAA
CGAGATGATCATCAAGCAGAAGGCAACAATGCAGGATTTGGAACAGAGGCGTCCCCAGTTGGAAGAACTC
ATTACCGCTGCCCAAAATTTGAAAAACAAGACCAGCAATCAAGAGGCTAGAACAATCATTACGGATCGAA
TTGAAAGAATTCAGAATCAGTGGGATGAAGTACAAGAACACCTTCAGAACCGGAGGCAACAGTTGAATGA
AATGTTAAAGGATTCAACACAATGGCTGGAAGCTAAGGAAGAAGCTGAGCAGGTCTTAGGACAGGCCAGA
GCCAAGCTTGAGTCATGGAAGGAGGGTCCCTATACAGTAGATGCAATCCAAAAGAAAATCACAGAAACCA
AGCAGTTGGCCAAAGACCTCCGCCAGTGGCAGACAAATGTAGATGTGGCAAATGACTTGGCCCTGAAACT
TCTCCGGGATTATTCTGCAGATGATACCAGAAAAGTCCACATGATAACAGAGAATATCAATGCCTCTTGG
AGAAGCATTCATAAAAGGGTGAGTGAGCGAGAGGCTGCTTTGGAAGAAACTCATAGATTACTGCAACAGT
TCCCCCTGGACCTGGAAAAGTTTCTTGCCTGGCTTACAGAAGCTGAAACAACTGCCAATGTCCTACAGGA
TGCTACCCGTAAGGAAAGGCTCCTAGAAGACTCCAAGGGAGTAAAAGAGCTGATGAAACAATGGCAAGAC
CTCCAAGGTGAAATTGAAGCTCACACAGATGTTTATCACAACCTGGATGAAAACAGCCAAAAAATCCTGA
GATCCCTGGAAGGTTCCGATGATGCAGTCCTGTTACAAAGACGTTTGGATAACATGAACTTCAAGTGGAG
TGAACTTCGGAAAAAGTCTCTCAACATTAGGTCCCATTTGGAAGCCAGTTCTGACCAGTGGAAGCGTCTG
CACCTTTCTCTGCAGGAACTTCTGGTGTGGCTACAGCTGAAAGATGATGAATTAAGCCGGCAGGCACCTA
TTGGAGGCGACTTTCCAGCAGTTCAGAAGCAGAACGATGTACATAGGGCCTTCAAGAGGGAATTGAAAAC
TAAAGAACCTGTAATCATGAGTACTCTTGAGACTGTACGAATATTTCTGACAGAGCAGCCTTTGGAAGGA
CTAGAGAAACTCTACCAGGAGCCCAGAGAGCTGCCTCCTGAGGAGAGAGCCCAGAATGTCACTCGGCTTC
TACGAAAGCAGGCTGAGGAGGTCAATACTGAGTGGGAAAAATTGAACCTGCACTCCGCTGACTGGCAGAG
AAAAATAGATGAGACCCTTGAAAGACTCCAGGAACTTCAAGAGGCCACGGATGAGCTGGACCTCAAGCTG
CGCCAAGCTGAGGTGATCAAGGGATCCTGGCAGCCCGTGGGCGATCTCCTCATTGACTCTCTCCAAGATC
ACCTCGAGAAAGTCAAGGCACTTCGAGGAGAAATTGCGCCTCTGAAAGAGAACGTGAGCCACGTCAATGA
CCTTGCTCGCCAGCTTACCACTTTGGGCATTCAGCTCTCACCGTATAACCTCAGCACTCTGGAAGACCTG
AACACCAGATGGAAGCTTCTGCAGGTGGCCGTCGAGGACCGAGTCAGGCAGCTGCATGAAGCCCACAGGG
ACTTTGGTCCAGCATCTCAGCACTTTCTTTCCACGTCTGTCCAGGGTCCCTGGGAGAGAGCCATCTCGCC
AAACAAAGTGCCCTACTATATCAACCACGAGACTCAAACAACTTGCTGGGACCATCCCAAAATGACAGAG
CTCTACCAGTCTTTAGCTGACCTGAATAATGTCAGATTCTCAGCTTATAGGACTGCCATGAAACTCCGAA
GACTGCAGAAGGCCCTTTGCTTGGATCTCTTGAGCCTGTCAGCTGCATGTGATGCCTTGGACCAGCACAA
CCTCAAGCAAAATGACCAGCCCATGGATATCCTGCAGATTATTAATTGTTTGACCACTATTTATGACCGC
CTGGAGCAAGAGCACAACAATTTGGTCAACGTCCCTCTCTGCGTGGATATGTGTCTGAACTGGCTGCTGA
ATGTTTATGATACGGGACGAACAGGGAGGATCCGTGTCCTGTCTTTTAAAACTGGCATCATTTCCCTGTG
TAAAGCACATTTGGAAGACAAGTACAGATACCTTTTCAAGCAAGTGGCAAGTTCAACAGGATTTTGTGAC
CAGCGCAGGCTGGGCCTCCTTCTGCATGATTCTATCCAAATTCCAAGACAGTTGGGTGAAGTTGCATCCT
TTGGGGGCAGTAACATTGAGCCAAGTGTCCGGAGCTGCTTCCAATTTGCTAATAATAAGCCAGAGATCGA
AGCGGCCCTCTTCCTAGACTGGATGAGACTGGAACCCCAGTCCATGGTGTGGCTGCCCGTCCTGCACAGA
GTGGCTGCTGCAGAAACTGCCAAGCATCAGGCCAAATGTAACATCTGCAAAGAGTGTCCAATCATTGGAT
TCAGGTACAGGAGTCTAAAGCACTTTAATTATGACATCTGCCAAAGCTGCTTTTTTTCTGGTCGAGTTGC
AAAAGGCCATAAAATGCACTATCCCATGGTGGAATATTGCACTCCGACTACATCAGGAGAAGATGTTCGA
GACTTTGCCAAGGTACTAAAAAACAAATTTCGAACCAAAAGGTATTTTGCGAAGCATCCCCGAATGGGCT
ACCTGCCAGTGCAGACTGTCTTAGAGGGGGACAACATGGAAACTCCCGTTACTCTGATCAACTTCTGGCC
AGTAGATTCTGCGCCTGCCTCGTCCCCTCAGCTTTCACACGATGATACTCATTCACGCATTGAACATTAT
GCTAGCAGGCTAGCAGAAATGGAAAACAGCAATGGATCTTATCTAAATGATAGCATCTCTCCTAATGAGA
GCATAGATGATGAACATTTGTTAATCCAGCATTACTGCCAAAGTTTGAACCAGGACTCCCCCCTGAGCCA
GCCTCGTAGTCCTGCCCAGATCTTGATTTCCTTAGAGAGTGAGGAAAGAGGGGAGCTAGAGAGAATCCTA
GCAGATCTTGAGGAAGAAAACAGGAATCTGCAAGCAGAATATGACCGTCTAAAGCAGCAGCACGAACATA
AAGGCCTGTCCCCACTGCCGTCCCCTCCTGAAATGATGCCCACCTCTCCCCAGAGTCCCCGGGATGCTGA
GCTCATTGCTGAGGCCAAGCTACTGCGTCAACACAAAGGCCGCCTGGAAGCCAGGATGCAAATCCTGGAA
GACCACAATAAACAGCTGGAGTCACAGTTACACAGGCTAAGGCAGCTGCTGGAGCAACCCCAGGCAGAGG
CCAAAGTGAATGGCACAACGGTGTCCTCTCCTTCTACCTCTCTACAGAGGTCCGACAGCAGTCAGCCTAT
GCTGCTCCGAGTGGTTGGCAGTCAAACTTCGGACTCCATGGGTGAGGAAGATCTTCTCAGTCCTCCCCAG
GACACAAGCACAGGGTTAGAGGAGGTGATGGAGCAACTCAACAACTCCTTCCCTAGTTCAAGAGGAAGAA
ATACCCCTGGAAAGCCAATGAGAGAGGACACAATGTAGGAAGTCTTTTCCACATGGCAGATGATTTGGGC
AGAGCGATGGAGTCCTTAGTATCAGTCATGACAGATGAAGAAGGAGCAGAATAAATGTTTTACAACTCCT
GATTCCCGCATGGTTTTTATAATATTCATACAACAAAGAGGATTAGACAGTAAGAGTTTACAAGAAATAA
ATCTATATTTTTGTGAAGGGTAGTGGTATTATACTGTAGATTTCAGTAGTTTCTAAGTCTGTTATTGTTT
TGTTAACAATGGCAGGTTTTACACGTCTATGCAATTGTACAAAAAAGTTATAAGAAAACTACATGTAAAA
TCTTGATAGCTAAATAACTTGCCATTTCTTTATATGGAACGCATTTTGGGTTGTTTAAAAATTTATAACA
GTTATAAAGAAAGATTGTAAACTAAAGTGTGCTTTATAAAAAAAAGTTGTTTATAAAAACCCCTAAAAAC
AAAACAAACACACACACACACACATACACACACACACACAAAACTTTGAGGCAGCGCATTGTTTTGCATC
CTTTTGGCGTGATATCCATATGAAATTCATGGCTTTTTCTTTTTTTGCATATTAAAGATAAGACTTCCTC
TACCACCACACCAAATGACTACTACACACTGCTCATTTGAGAACTGTCAGCTGAGTGGGGCAGGCTTGAG
TTTTCATTTCATATATCTATATGTCTATAAGTATATAAATACTATAGTTATATAGATAAAGAGATACGAA
TTTCTATAGACTGACTTTTTCCATTTTTTAAATGTTCATGTCACATCCTAATAGAAAGAAATTACTTCTA
GTCAGTCATCCAGGCTTACCTGCTTGGTCTAGAATGGATTTTTCCCGGAGCCGGAAGCCAGGAGGAAACT
ACACCACACTAAAACATTGTCTACAGCTCCAGATGTTTCTCATTTTAAACAACTTTCCACTGACAACGAA
AGTAAAGTAAAGTATTGGATTTTTTTAAAGGGAACATGTGAATGAATACACAGGACTTATTATATCAGAG
TGAGTAATCGGTTGGTTGGTTGATTGATTGATTGATTGATACATTCAGCTTCCTGCTGCTAGCAATGCCA
CGATTTAGATTTAATGATGCTTCAGTGGAAATCAATCAGAAGGTATTCTGACCTTGTGAACATCAGAAGG
TATTTTTTAACTCCCAAGCAGTAGCAGGACGATGATAGGGCTGGAGGGCTATGGATTCCCAGCCCATCCC
TGTGAAGGAGTAGGCCACTCTTTAAGTGAAGGATTGGATGATTGTTCATAATACATAAAGTTCTCTGTAA
TTACAACTAAATTATTATGCCCTCTTCTCACAGTCAAAAGGAACTGGGTGGTTTGGTTTTTGTTGCTTTT
TTAGATTTATTGTCCCATGTGGGATGAGTTTTTAAATGCCACAAGACATAATTTAAAATAAATAAACTTT
GGGAAAAGGTGTAAAACAGTAGCCCCATCACATTTGTGATACTGACAGGTATCAACCCAGAAGCCCATGA
ACTGTGTTTCCATCCTTTGCATTTCTCTGCGAGTAGTTCCACACAGGTTTGTAAGTAAGTAAGAAAGAAG
GCAAATTGATTCAAATGTTACAAAAAAACCCTTCTTGGTGGATTAGACAGGTTAAATATATAAACAAACA
AACAAAAATTGCTCAAAAAAGAGGAGAAAAGCTCAAGAGGAAAAGCTAAGGACTGGTAGGAAAAAGCTTT
ACTCTTTCATGCCATTTTATTTCTTTTTGATTTTTAAATCATTCATTCAATAGATACCACCGTGTGACCT
ATAATTTTGCAAATCTGTTACCTCTGACATCAAGTGTAATTAGCTTTTGGAGAGTGGGCTGACATCAAGT
GTAATTAGCTTTTGGAGAGTGGGTTTTGTCCATTATTAATAATTAATTAATTAACATCAAACACGGCTTC
TCATGCTATTTCTACCTCACTTTGGTTTTGGGGTGTTCCTGATAATTGTGCACACCTGAGTTCACAGCTT
CACCACTTGTCCATTGCGTTATTTTCTTTTTCCTTTATAATTCTTTCTTTTTCCTTCATAATTTTCAAAA
GAAAACCCAAAGCTCTAAGGTAACAAATTACCAAATTACATGAAGATTTGGTTTTTGTCTTGCATTTTTT
TCCTTTATGTGACGCTGGACCTTTTCTTTACCCAAGGATTTTTAAAACTCAGATTTAAAACAAGGGGTTA
CTTTACATCCTACTAAGAAGTTTAAGTAAGTAAGTTTCATTCTAAAATCAGAGGTAAATAGAGTGCATAA
ATAATTTTGTTTTAATCTTTTTGTTTTTCTTTTAGACACATTAGCTCTGGAGTGAGTCTGTCATAATATT
TGAACAAAAATTGAGAGCTTTATTGCTGCATTTTAAGCATAATTAATTTGGACATTATTTCGTGTTGTGT
TCTTTATAACCACCAAGTATTAAACTGTAAATCATAATGTAACTGAAGCATAAACATCACATGGCATGTT
TTGTCATTGTTTTCAGGTACTGAGTTCTTACTTGAGTATCATAATATATTGTGTTTTAACACCAACACTG
TAACATTTACGAATTATTTTTTTAAACTTCAGTTTTACTGCATTTTCACAACATATCAGACTTCACCAAA
TATATGCCTTACTATTGTATTATAGTACTGCTTTACTGTGTATCTCAATAAAGCACGCAGTTATGTTAC
Pfam (8 motifs)
|
Pfam |
Position(Independent E-value) |
Description |
|
Spectrin |
340..446(7.3e-16) 453..556(6e-13) 562..664(0.16) 727..827(1.9e-06) 832..933(1.1e-08) 943..1045(5.6e-07) 1048..1153(9.1e-17) 1161..1263(2.7e-12) 1270..1367(7.6e-05) 1466..1567(0.0018) 1573..1675(5.3e-10) 1679..1776(5.6e-12) 1877..1977(2.3e-09) 2000..2097(3.9e-05) 2105..2208(5e-13) 2213..2317(5.2e-12) 2328..2421(0.047) 2473..2577(7.4e-09) 2583..2686(6.7e-11) 2690..2800(6e-07) 2807..2877(0.034) 2935..3040(2.9e-13) |
PF00435, Spectrin repeat |
|
CH |
16..118(1.3e-19) 136..239(4.1e-22) |
PF00307, Calponin homology (CH) domain |
|
EF-hand_2 |
3089..3207(1.8e-44) |
PF09068, EF hand |
|
EF-hand_3 |
3211..3302(2e-35) |
PF09069, EF-hand |
|
ZZ |
3308..3352(2.2e-18) |
PF00569, Zinc finger, ZZ type |
|
WW |
3059..3086(2.4e-08) |
PF00397, WW domain |
|
CAMSAP_CH |
155..196(0.11) |
PF11971, CAMSAP CH domain |
|
CCDC-167 |
1372..1432(0.011) |
PF15188, Coiled-coil domain-containing protein 167 |
Evolutionary analysis by Maximum Likelihood method
The evolutionary history was inferred by using the Maximum Likelihood method and JTT matrix-based model [1]. The tree with the highest log likelihood (-23826.57) is shown. Initial tree(s) for the heuristic search were obtained automatically by applying Neighbor-Join and BioNJ algorithms to a matrix of pairwise distances estimated using a JTT model, and then selecting the topology with superior log likelihood value. The proportion of sites where at least 1 unambiguous base is present in at least 1 sequence for each descendent clade is shown next to each internal node in the tree. This analysis involved 100 amino acid sequences. There were a total of 3877 positions in the final dataset. Evolutionary analyses were conducted in MEGA X
|
SNP |
COORDINATE |
AMINO ACID CHANGE |
GENE ID |
TRANSCRIPT ID |
PROTEIN ID |
SIFT SCORE |
SIFT MEDIAN |
SIFT PREDICTION |
|
rs1064325 |
32364116 |
R1844R |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
1 |
2.71 |
TOLERATED |
|
rs1064325 |
32364116 |
R1840R |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
1 |
2.7 |
TOLERATED |
|
rs1064325 |
32364116 |
R63R |
ENSG00000198947 |
ENST00000493412 |
ENSP00000417725 |
1 |
4.32 |
TOLERATED |
|
rs5030730 |
32456489 |
R1314* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs5030730 |
32456489 |
R1310* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs34563188 |
32563447 |
S666L |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
0.025 |
2.86 |
DELETERIOUS |
|
rs34563188 |
32563447 |
S662L |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
0.026 |
2.85 |
DELETERIOUS |
|
rs34563188 |
32563447 |
S658L |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
0.233 |
3.18 |
TOLERATED |
|
rs72466562 |
31366742 |
E3028K |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
0.087 |
2.72 |
TOLERATED |
|
rs72466562 |
31366742 |
E3032K |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
0.088 |
2.72 |
TOLERATED |
|
rs72466562 |
31366742 |
E728K |
ENSG00000198947 |
ENST00000358062 |
ENSP00000350765 |
0.094 |
2.63 |
TOLERATED |
|
rs72466562 |
31366742 |
E572K |
ENSG00000198947 |
ENST00000343523 |
ENSP00000340057 |
0.177 |
2.58 |
TOLERATED |
|
rs72466562 |
31366742 |
E572K |
ENSG00000198947 |
ENST00000541735 |
ENSP00000444119 |
0.178 |
2.58 |
TOLERATED |
|
rs72466562 |
31366742 |
E572K |
ENSG00000198947 |
ENST00000474231 |
ENSP00000417123 |
0.179 |
2.59 |
TOLERATED |
|
rs72466562 |
31366742 |
E572K |
ENSG00000198947 |
ENST00000359836 |
ENSP00000352894 |
0.18 |
2.59 |
TOLERATED |
|
rs72466562 |
31366742 |
E572K |
ENSG00000198947 |
ENST00000378707 |
ENSP00000367979 |
0.18 |
2.59 |
TOLERATED |
|
rs72468667 |
32486806 |
E991Q |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
0.098 |
2.86 |
TOLERATED |
|
rs72468667 |
32486806 |
E987Q |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
0.099 |
2.86 |
TOLERATED |
|
rs79541196 |
32366588 |
E14Q |
ENSG00000198947 |
ENST00000493412 |
ENSP00000417725 |
0 |
4.32 |
DELETERIOUS (WARNING LOW CONFIDENCE) |
|
rs79541196 |
32366588 |
E1791Q |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
0.091 |
2.72 |
TOLERATED |
|
rs79541196 |
32366588 |
E1795Q |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
0.092 |
2.72 |
TOLERATED |
|
rs104894787 |
31196901 |
R910* |
ENSG00000198947 |
ENST00000343523 |
ENSP00000340057 |
|
|
|
|
rs104894787 |
31196901 |
R3370* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs104894787 |
31196901 |
R1066* |
ENSG00000198947 |
ENST00000358062 |
ENSP00000350765 |
|
|
|
|
rs104894787 |
31196901 |
R910* |
ENSG00000198947 |
ENST00000359836 |
ENSP00000352894 |
|
|
|
|
rs104894787 |
31196901 |
R302* |
ENSG00000198947 |
ENST00000361471 |
ENSP00000354464 |
|
|
|
|
rs104894787 |
31196901 |
R3366* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs104894787 |
31196901 |
R302* |
ENSG00000198947 |
ENST00000378680 |
ENSP00000367951 |
|
|
|
|
rs104894787 |
31196901 |
R302* |
ENSG00000198947 |
ENST00000378702 |
ENSP00000367974 |
|
|
|
|
rs104894787 |
31196901 |
R160* |
ENSG00000198947 |
ENST00000378705 |
ENSP00000367977 |
|
|
|
|
rs104894787 |
31196901 |
R910* |
ENSG00000198947 |
ENST00000378707 |
ENSP00000367979 |
|
|
|
|
rs104894787 |
31196901 |
R302* |
ENSG00000198947 |
ENST00000378723 |
ENSP00000367997 |
|
|
|
|
rs104894787 |
31196901 |
R910* |
ENSG00000198947 |
ENST00000474231 |
ENSP00000417123 |
|
|
|
|
rs104894787 |
31196901 |
R910* |
ENSG00000198947 |
ENST00000541735 |
ENSP00000444119 |
|
|
|
|
rs104894788 |
31198554 |
C880Y |
ENSG00000198947 |
ENST00000343523 |
ENSP00000340057 |
0.001 |
2.57 |
DELETERIOUS |
|
rs104894788 |
31198554 |
C880Y |
ENSG00000198947 |
ENST00000541735 |
ENSP00000444119 |
0.001 |
2.58 |
DELETERIOUS |
|
rs104894788 |
31198554 |
C3340Y |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
0.002 |
2.83 |
DELETERIOUS |
|
rs104894788 |
31198554 |
C1036Y |
ENSG00000198947 |
ENST00000358062 |
ENSP00000350765 |
0.002 |
2.65 |
DELETERIOUS |
|
rs104894788 |
31198554 |
C880Y |
ENSG00000198947 |
ENST00000359836 |
ENSP00000352894 |
0.002 |
2.58 |
DELETERIOUS |
|
rs104894788 |
31198554 |
C272Y |
ENSG00000198947 |
ENST00000361471 |
ENSP00000354464 |
0.002 |
2.93 |
DELETERIOUS |
|
rs104894788 |
31198554 |
C3336Y |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
0.002 |
2.83 |
DELETERIOUS |
|
rs104894788 |
31198554 |
C272Y |
ENSG00000198947 |
ENST00000378680 |
ENSP00000367951 |
0.002 |
2.95 |
DELETERIOUS |
|
rs104894788 |
31198554 |
C272Y |
ENSG00000198947 |
ENST00000378702 |
ENSP00000367974 |
0.002 |
2.94 |
DELETERIOUS |
|
rs104894788 |
31198554 |
C130Y |
ENSG00000198947 |
ENST00000378705 |
ENSP00000367977 |
0.002 |
3.3 |
DELETERIOUS |
|
rs104894788 |
31198554 |
C880Y |
ENSG00000198947 |
ENST00000378707 |
ENSP00000367979 |
0.002 |
2.59 |
DELETERIOUS |
|
rs104894788 |
31198554 |
C272Y |
ENSG00000198947 |
ENST00000378723 |
ENSP00000367997 |
0.002 |
2.91 |
DELETERIOUS |
|
rs104894788 |
31198554 |
C880Y |
ENSG00000198947 |
ENST00000474231 |
ENSP00000417123 |
0.002 |
2.58 |
DELETERIOUS |
|
rs104894789 |
31200901 |
Q850* |
ENSG00000198947 |
ENST00000343523 |
ENSP00000340057 |
|
|
|
|
rs104894789 |
31200901 |
Q3310* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs104894789 |
31200901 |
Q1006* |
ENSG00000198947 |
ENST00000358062 |
ENSP00000350765 |
|
|
|
|
rs104894789 |
31200901 |
Q850* |
ENSG00000198947 |
ENST00000359836 |
ENSP00000352894 |
|
|
|
|
rs104894789 |
31200901 |
Q242* |
ENSG00000198947 |
ENST00000361471 |
ENSP00000354464 |
|
|
|
|
rs104894789 |
31200901 |
Q3306* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs104894789 |
31200901 |
Q242* |
ENSG00000198947 |
ENST00000378680 |
ENSP00000367951 |
|
|
|
|
rs104894789 |
31200901 |
Q242* |
ENSG00000198947 |
ENST00000378702 |
ENSP00000367974 |
|
|
|
|
rs104894789 |
31200901 |
Q100* |
ENSG00000198947 |
ENST00000378705 |
ENSP00000367977 |
|
|
|
|
rs104894789 |
31200901 |
Q850* |
ENSG00000198947 |
ENST00000378707 |
ENSP00000367979 |
|
|
|
|
rs104894789 |
31200901 |
Q242* |
ENSG00000198947 |
ENST00000378723 |
ENSP00000367997 |
|
|
|
|
rs104894789 |
31200901 |
Q850* |
ENSG00000198947 |
ENST00000474231 |
ENSP00000417123 |
|
|
|
|
rs104894789 |
31200901 |
Q850* |
ENSG00000198947 |
ENST00000541735 |
ENSP00000444119 |
|
|
|
|
rs104894790 |
31196868 |
R921* |
ENSG00000198947 |
ENST00000343523 |
ENSP00000340057 |
|
|
|
|
rs104894790 |
31196868 |
R3381* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs104894790 |
31196868 |
R1077* |
ENSG00000198947 |
ENST00000358062 |
ENSP00000350765 |
|
|
|
|
rs104894790 |
31196868 |
R921* |
ENSG00000198947 |
ENST00000359836 |
ENSP00000352894 |
|
|
|
|
rs104894790 |
31196868 |
R313* |
ENSG00000198947 |
ENST00000361471 |
ENSP00000354464 |
|
|
|
|
rs104894790 |
31196868 |
R3377* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs104894790 |
31196868 |
R313* |
ENSG00000198947 |
ENST00000378680 |
ENSP00000367951 |
|
|
|
|
rs104894790 |
31196868 |
R313* |
ENSG00000198947 |
ENST00000378702 |
ENSP00000367974 |
|
|
|
|
rs104894790 |
31196868 |
R171* |
ENSG00000198947 |
ENST00000378705 |
ENSP00000367977 |
|
|
|
|
rs104894790 |
31196868 |
R921* |
ENSG00000198947 |
ENST00000378707 |
ENSP00000367979 |
|
|
|
|
rs104894790 |
31196868 |
R313* |
ENSG00000198947 |
ENST00000378723 |
ENSP00000367997 |
|
|
|
|
rs104894790 |
31196868 |
R921* |
ENSG00000198947 |
ENST00000474231 |
ENSP00000417123 |
|
|
|
|
rs104894790 |
31196868 |
R921* |
ENSG00000198947 |
ENST00000541735 |
ENSP00000444119 |
|
|
|
|
rs104894791 |
31196049 |
A3417V |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
0.233 |
3.12 |
TOLERATED |
|
rs104894791 |
31196049 |
A3421V |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
0.234 |
3.12 |
TOLERATED |
|
rs104894791 |
31196049 |
A961V |
ENSG00000198947 |
ENST00000378707 |
ENSP00000367979 |
0.266 |
3.04 |
TOLERATED |
|
rs104894791 |
31196049 |
A211V |
ENSG00000198947 |
ENST00000378705 |
ENSP00000367977 |
0.268 |
3.66 |
TOLERATED |
|
rs104894791 |
31196049 |
A961V |
ENSG00000198947 |
ENST00000474231 |
ENSP00000417123 |
0.268 |
3.06 |
TOLERATED |
|
rs104894791 |
31196049 |
A353V |
ENSG00000198947 |
ENST00000378702 |
ENSP00000367974 |
0.279 |
3.26 |
TOLERATED |
|
rs104894791 |
31196049 |
A353V |
ENSG00000198947 |
ENST00000378723 |
ENSP00000367997 |
0.279 |
3.28 |
TOLERATED |
|
rs104894797 |
31224780 |
R730* |
ENSG00000198947 |
ENST00000343523 |
ENSP00000340057 |
|
|
|
|
rs104894797 |
31224780 |
R3190* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs104894797 |
31224780 |
R886* |
ENSG00000198947 |
ENST00000358062 |
ENSP00000350765 |
|
|
|
|
rs104894797 |
31224780 |
R730* |
ENSG00000198947 |
ENST00000359836 |
ENSP00000352894 |
|
|
|
|
rs104894797 |
31224780 |
R122* |
ENSG00000198947 |
ENST00000361471 |
ENSP00000354464 |
|
|
|
|
rs104894797 |
31224780 |
R3186* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs104894797 |
31224780 |
R122* |
ENSG00000198947 |
ENST00000378680 |
ENSP00000367951 |
|
|
|
|
rs104894797 |
31224780 |
R122* |
ENSG00000198947 |
ENST00000378702 |
ENSP00000367974 |
|
|
|
|
rs104894797 |
31224780 |
R730* |
ENSG00000198947 |
ENST00000378707 |
ENSP00000367979 |
|
|
|
|
rs104894797 |
31224780 |
R122* |
ENSG00000198947 |
ENST00000378723 |
ENSP00000367997 |
|
|
|
|
rs104894797 |
31224780 |
R730* |
ENSG00000198947 |
ENST00000474231 |
ENSP00000417123 |
|
|
|
|
rs104894797 |
31224780 |
R730* |
ENSG00000198947 |
ENST00000541735 |
ENSP00000444119 |
|
|
|
|
rs128625226 |
32472913 |
E1157* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128625226 |
32472913 |
E1153* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128625227 |
32503048 |
E931* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128625227 |
32503048 |
E927* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128625228 |
32364095 |
Q1851* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128625228 |
32364095 |
Q1847* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128625228 |
32364095 |
Q70* |
ENSG00000198947 |
ENST00000493412 |
ENSP00000417725 |
|
|
|
|
rs128625229 |
31462738 |
R522* |
ENSG00000198947 |
ENST00000343523 |
ENSP00000340057 |
|
|
|
|
rs128625229 |
31462738 |
R2982* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128625229 |
31462738 |
R678* |
ENSG00000198947 |
ENST00000358062 |
ENSP00000350765 |
|
|
|
|
rs128625229 |
31462738 |
R522* |
ENSG00000198947 |
ENST00000359836 |
ENSP00000352894 |
|
|
|
|
rs128625229 |
31462738 |
R2978* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128625229 |
31462738 |
R522* |
ENSG00000198947 |
ENST00000378707 |
ENSP00000367979 |
|
|
|
|
rs128625229 |
31462738 |
R522* |
ENSG00000198947 |
ENST00000474231 |
ENSP00000417123 |
|
|
|
|
rs128625229 |
31462738 |
R522* |
ENSG00000198947 |
ENST00000541735 |
ENSP00000444119 |
|
|
|
|
rs128625230 |
31893448 |
Q2319* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128625230 |
31893448 |
Q15* |
ENSG00000198947 |
ENST00000358062 |
ENSP00000350765 |
|
|
|
|
rs128625230 |
31893448 |
Q2315* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128625230 |
31893448 |
|
ENSG00000198947 |
ENST00000343523 |
ENSP00000340057 |
|
|
|
|
rs128625230 |
31893448 |
|
ENSG00000198947 |
ENST00000359836 |
ENSP00000352894 |
|
|
|
|
rs128625230 |
31893448 |
|
ENSG00000198947 |
ENST00000378707 |
ENSP00000367979 |
|
|
|
|
rs128625230 |
31893448 |
|
ENSG00000198947 |
ENST00000474231 |
ENSP00000417123 |
|
|
|
|
rs128625230 |
31893448 |
|
ENSG00000198947 |
ENST00000541735 |
ENSP00000444119 |
|
|
|
|
rs128626231 |
32867870 |
L46R |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
0 |
3.06 |
DELETERIOUS |
|
rs128626231 |
32867870 |
L54R |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
0 |
2.95 |
DELETERIOUS |
|
rs128626231 |
32867870 |
L50R |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
0 |
2.95 |
DELETERIOUS |
|
rs128626231 |
32867870 |
L17R |
ENSG00000198947 |
ENST00000447523 |
ENSP00000395904 |
0.004 |
2.63 |
DELETERIOUS |
|
rs128626232 |
32563427 |
Q665* |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
|
|
|
|
rs128626232 |
32563427 |
Q673* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626232 |
32563427 |
Q669* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626233 |
32867853 |
Q52* |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
|
|
|
|
rs128626233 |
32867853 |
Q60* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626233 |
32867853 |
Q56* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626233 |
32867853 |
Q23* |
ENSG00000198947 |
ENST00000447523 |
ENSP00000395904 |
|
|
|
|
rs128626234 |
32862911 |
Q77* |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
|
|
|
|
rs128626234 |
32862911 |
Q85* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626234 |
32862911 |
Q81* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626234 |
32862911 |
Q48* |
ENSG00000198947 |
ENST00000447523 |
ENSP00000395904 |
|
|
|
|
rs128626235 |
32834682 |
R137* |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
|
|
|
|
rs128626235 |
32834682 |
R145* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626235 |
32834682 |
R141* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626235 |
32834682 |
R137R |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
1 |
3.07 |
TOLERATED |
|
rs128626235 |
32834682 |
R145R |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
1 |
2.95 |
TOLERATED |
|
rs128626235 |
32834682 |
R141R |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
1 |
2.94 |
TOLERATED |
|
rs128626236 |
32834612 |
A168D |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
0.03 |
2.95 |
DELETERIOUS |
|
rs128626236 |
32834612 |
A164D |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
0.03 |
2.94 |
DELETERIOUS |
|
rs128626236 |
32834612 |
A160D |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
0.036 |
3.07 |
DELETERIOUS |
|
rs128626237 |
32717369 |
Y231N |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
0 |
2.94 |
DELETERIOUS |
|
rs128626237 |
32717369 |
Y227N |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
0 |
2.94 |
DELETERIOUS |
|
rs128626237 |
32717369 |
Y223N |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
0.005 |
2.95 |
DELETERIOUS |
|
rs128626238 |
32717336 |
Q234* |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
|
|
|
|
rs128626238 |
32717336 |
Q242* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626238 |
32717336 |
Q238* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626239 |
32717312 |
E242* |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
|
|
|
|
rs128626239 |
32717312 |
E250* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626239 |
32717312 |
E246* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626240 |
32632464 |
G472* |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
|
|
|
|
rs128626240 |
32632464 |
G480* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626240 |
32632464 |
G476* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626241 |
32613987 |
Q489* |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
|
|
|
|
rs128626241 |
32613987 |
Q497* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626241 |
32613987 |
Q493* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626242 |
32583859 |
W643* |
ENSG00000198947 |
ENST00000288447 |
ENSP00000288447 |
|
|
|
|
rs128626242 |
32583859 |
W651* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626242 |
32583859 |
W647* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626243 |
32519944 |
K770* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626243 |
32519944 |
K766* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626244 |
32519935 |
K773E |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
0.202 |
2.86 |
TOLERATED |
|
rs128626244 |
32519935 |
K769E |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
0.203 |
2.86 |
TOLERATED |
|
rs128626245 |
32486656 |
Q1041* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626245 |
32486656 |
Q1037* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626246 |
32482791 |
W1063* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626246 |
32482791 |
W1059* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626247 |
32429889 |
Q1405* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626247 |
32429889 |
Q1401* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626248 |
32407722 |
Q1472* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626248 |
32407722 |
Q1468* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626249 |
32360240 |
R1967* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626249 |
32360240 |
R1963* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626250 |
32235179 |
R2098* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626250 |
32235179 |
R2094* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626251 |
32235098 |
Q2125* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626251 |
32235098 |
Q2121* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626252 |
31947835 |
Q2264* |
ENSG00000198947 |
ENST00000357033 |
ENSP00000354923 |
|
|
|
|
rs128626252 |
31947835 |
Q2260* |
ENSG00000198947 |
ENST00000378677 |
ENSP00000367948 |
|
|
|
|
rs128626252 |
31947835 |
|
ENSG00000198947 |
ENST00000343523 |
ENSP00000340057 |
|
|
|
|
rs128626252 |
31947835 |
|
ENSG00000198947 |
ENST00000359836 |
ENSP00000352894 |
|
|
|
|
rs128626252 |
31947835 |
|
ENSG00000198947 |
ENST00000378707 |
ENSP00000367979 |
|
|
|
|
rs128626252 |
31947835 |
|
ENSG00000198947 |
ENST00000474231 |
ENSP00000417123 |
|
|
|
|
rs128626252 |
31947835 |
|
ENSG00000198947 |
ENST00000541735 |
ENSP00000444119 |
|
|
|
Evolutionary analysis of coding SNPs
|
SNP |
Substitution |
Probability of deleterious effect |
Prediction Score |
|
rs1064325 |
R1844R |
probably benign |
0.19 |
|
rs34563188 |
S666L |
probably benign |
0.19 |
|
rs72466562 |
E3032K |
probably benign |
0.19 |
|
rs72468667 |
E991Q |
probably benign |
0.19 |
|
rs79541196 |
E14Q |
probably benign |
0.19 |
|
rs79541196 |
E1795Q |
probably benign |
0.19 |
|
rs104894788 |
C3340Y |
probably damaging |
0.74 |
|
rs104894791 |
A3421V |
probably benign |
0.19 |
|
rs128626231 |
L54R |
probably damaging |
0.74 |
|
rs128626231 |
L50R |
probably damaging |
0.74 |
|
rs128626235 |
R145R |
probably damaging |
0.74 |
|
rs128626236 |
A168D |
probably damaging |
0.74 |
|
rs128626237 |
Y231N |
probably damaging |
0.74 |
|
rs128626244 |
K773E |
probably benign |
0.19 |
Provean
|
SNP Id’s |
Amino Acid Change |
Probability |
Prediction |
Score |
|
rs72466562 |
E572K |
Neutral |
Damaging |
-2.23 |
|
rs72466562 |
E572K |
Deleterious |
Damaging |
-2.52 |
|
rs72466562 |
E572K |
Deleterious |
Damaging |
-2.52 |
|
rs72466562 |
E572K |
Neutral |
Damaging |
-2.4 |
|
rs104894788 |
C880Y |
Deleterious |
Damaging |
-9.07 |
|
rs104894788 |
C272Y |
Deleterious |
Damaging |
-10.03 |
|
rs104894791 |
A353V |
Neutral |
Tolerated |
-1.22 |
SNAP 2
|
Wildetype Amino Acid |
Position |
Variant Amino Acid |
Predicted Effect |
Score |
Expected Accurancy |
|
E |
572 |
K |
Effect |
77 |
90% |
|
E |
572 |
K |
Effect |
65 |
87% |
|
E |
572 |
K |
Effect |
35 |
57% |
|
E |
572 |
K |
Neutral |
87 |
75% |
|
C |
880 |
Y |
Effect |
-40 |
48% |
|
C |
272 |
Y |
Effect |
64 |
85% |
|
A |
353 |
V |
Neutral |
90 |
90% |
Polyphen 2
|
Rs_Id |
Mutation Probability |
Score |
|
rs72466562 |
Probably damaging |
0.999 |
|
rs72466562 |
Possibly damaging |
0.999 |
|
rs72466562 |
Probably damaging |
1.00 |
|
rs72466562 |
Probably damaging |
0.98 |
|
rs104894788 |
Possibly damaging |
1.00 |
|
rs104894788 |
Probably damaging |
0.999 |
|
rs104894791 |
Possibly damaging |
0.999 |
|
rs72466562 |
Probably damaging |
1.00 |
|
rs72l466562 |
Probably damaging |
0.98 |
Hope Prediction
|
Rs_ids |
Mutation |
Mapping issue |
AA |
Function. |
Score |
|
rs72466562 |
Dystrophin_E572K |
|
E572K |
High |
7.68 |
|
rs72466562 |
Dystrophin_C880Y |
Uniprot residue:K |
C880Y |
|
|
|
rs104894788 |
Dystrophin_C272Y |
|
C272Y |
Medium |
5.98 |
|
rs104894791 |
Dystrophin_A353V |
Uniprot residue:H |
A353V |
|
|
|
rs128626236 |
Dystrophin_A168D |
|
A168D |
Medium |
4.66 |
|
rs128626235 |
Dystrophin_R145R |
Uniprot residue:Y |
R145R |
|
|
|
rs34563188 |
Dystrophin_S666L |
|
S666L |
Low |
1.43 |
Nil
|
Number of amino acids
|
3685
|
|
Molecular weight
|
426749.62
|
|
Theoretical pI
|
5.64
|
|
Amino acid composition |
Ala (A) 213 5.8% Arg (R) 198 5.4% Asn (N) 165 4.5% Asp (D) 194 5.3% Cys (C) 36 1.0% Gln (Q) 307 8.3% Glu (E) 387 10.5% Gly (G) 111 3.0% His (H) 88 2.4% Ile (I) 171 4.6% Leu (L) 455 12.3% Lys (K) 294 8.0% Met (M) 80 2.2% Phe (F) 81 2.2% Pro (P) 131 3.6% Ser (S) 243 6.6% Thr (T) 200 5.4% Trp (W) 72 2.0% Tyr (Y) 62 1.7% Val (V) 197 5.3% Pyl (O) 0 0.0% Sec (U) 0 0.0%
(B) 0 0.0% (Z) 0 0.0% (X) 0 0.0% |
|
Total number of negatively charged residues (Asp + Glu)
|
581
|
|
Total number of positively charged residues (Arg + Lys)
|
492
|
|
Formula
|
C18759H30143N5293O5825S116
|
|
Total number of atoms()
|
60136
|
|
Instability index(II)
|
56.32
|
|
Stability |
unstable
|
|
Aliphatic index(AI)
|
87.54
|
|
GRAVY
|
-0.695
|
|
Alpha helix (Hh) : 2977 is 80.79% 310 helix (Gg) : 0 is 0.00% Pi helix (Ii) : 0 is 0.00% Beta bridge (Bb) : 0 is 0.00% Extended strand (Ee) : 49 is 1.33% Beta turn (Tt) : 0 is 0.00% Bend region (Ss) : 0 is 0.00% Random coil (Cc) : 659 is 17.88% Ambiguous states (?) : 0 is 0.00% Other states : 0 is 0.00% |
Secondary Structure Prediction
Amino Acid Type
|
Name of enzyme |
No. of cleavages |
|
Arg-C proteinase |
198 |
|
Asp-N endopeptidase |
194 |
|
Asp-N endopeptidase + N-terminal Glu |
581 |
|
BNPS-Skatole |
72 |
|
Caspase1 |
3 |
|
CNBr |
80 |
|
Chymotrypsin-high specificity (C-term to [FYW], not before P) |
203 |
|
Chymotrypsin-low specificity (C-term to [FYWML], not before P) |
797 |
|
Clostripain |
198 |
|
Factor Xa |
1 |
|
Formic acid |
194 |
|
Glutamyl endopeptidase |
387 |
|
Iodosobenzoic acid |
72 |
|
Hydroxylamine |
3 |
|
LysC |
294 |
|
LysN |
294 |
|
NTCB (2-nitro-5-thiocyanobenzoic acid) |
36 |
|
Pepsin (pH1.3) |
745 |
|
Pepsin (pH>2) |
915 |
|
Proline-endopeptidase |
11 |
|
Proteinase K |
1838 |
|
Staphylococcal peptidase I |
342 |
|
Thermolysin |
937 |
|
Tobacco etch virus protease |
1 |
|
Trypsin |
480 |
|
Rank |
Start position |
Sequence |
Score |
Prediction |
|
1 |
1410 |
AQKIQSDLTSHEISLE |
0.94 |
Epitope |
|
1 |
1327 |
AQTLTDGGVMDELINE |
0.94 |
Epitope |
|
2 |
932 |
LQTIFDTLPPMRYQET |
0.92 |
Epitope |
|
3 |
699 |
AQEELPPPPPQKKRQI |
0.90 |
Epitope |
|
3 |
1379 |
LHLIQESLTFIDKQLA |
0.90 |
Epitope |
|
3 |
1190 |
PDELQKAVEEMKRAKE |
0.90 |
Epitope |
|
3 |
1129 |
TELKELNTQWDHMCQQ |
0.90 |
Epitope |
|
4 |
637 |
TQKTEAWLDNFARCWD |
0.89 |
Epitope |
|
4 |
1546 |
TALKLHYNELGAKVTE |
0.89 |
Epitope |
|
5 |
285 |
GYERTSSPKPRFKSYA |
0.88 |
Epitope |
|
5 |
174 |
HSHRPDLFDWNSVVCQ |
0.88 |
Epitope |
|
5 |
1552 |
YNELGAKVTERKQQLE |
0.88 |
Epitope |
|
6 |
93 |
NIGSTDIVDGNHKLTL |
0.87 |
Epitope |
|
6 |
854 |
KIQPTTPSEPTAIKSQ |
0.87 |
Epitope |
|
6 |
382 |
HEGYMMDLTAHQGRVG |
0.87 |
Epitope |
|
No of Nodes |
11 |
|
No of Edges |
42 |
|
Avg node degree |
7.64 |
|
avg. local clustering coefficient |
0.885 |
|
expected number of edges |
11 |
|
p-value |
2.23e-13
|
|
Protein – Protein Interaction network |
|
RNA Base Pairing Probability Plot
