IGDRPT (Indian Genetic Disease Risk Prediction Tool)

Disease Name: Androgen insensitivity syndrome

1 .Inheritance

X-linked Recessive

2. Gene Name

3. Protein Name

4. Chromosomal Location

Xq12

5. Protein Sequence

>sp|P10275|ANDR_HUMAN Androgen receptor OS=Homo sapiens OX=9606 GN=AR PE=1 SV=3

MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQ

QQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQ

SALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPSTLSLLGPTFPGLSSCSAD

LKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELC

KAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAG

KSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQ

SRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAA

GPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGEAGAVAP

YGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRL

ETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRN

DCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKL

TVSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWA

KALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSR

MYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELD

RIIACKRKNPTSCSRRFYQLTKLLDSVQPIARELHQFTFDLLIKSHMVSVDFPEMMAEII

SVQVPKILSGKVKPIYFHTQ

6. Gene Sequence

>NM_000044.6 AR ANDR_HUMAN Androgen receptor OS=Homo sapiens OX=9606 GN=AR PE=1 SV=3

AGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAG TCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAG TCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAG

7. Motif

Pfam	Position(Independent E-value)	Description
Androgen_recep	6..449(9.6e-250)	PF02166, Androgen receptor
Hormone_recep	696..879(7.5e-31)	PF00104, Ligand-binding domain of nuclear hormone receptor
zf-C4	559..626(1e-26)	PF00105, Zinc finger, C4 type (two domains)
U3_snoRNA_assoc	59..116(0.48)	PF08297, U3 snoRNA associated
Tim54	59..120(0.98)	PF11711, Inner membrane protein import complex subunit Tim54

8. Evolutionary Relationship

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 (-9840.74) 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 1033 positions in the final dataset.

9. SNP

SNP	COORDINATE	AMINO ACID CHANGE	GENE ID	TRANSCRIPT ID	PROTEIN ID	SIFT SCORE	SIFT MEDIAN	SIFT PREDICTION
rs1800053	66931295	A114D	ENSG00000169083	ENST00000396043	ENSP00000379358	0.233	2.93	TOLERATED
rs1800053	66931295	A646D	ENSG00000169083	ENST00000396044	ENSP00000379359	0.339	2.52	TOLERATED
rs1800053	66931295	A646D	ENSG00000169083	ENST00000374690	ENSP00000363822	0.555	2.35	TOLERATED
rs9332969	66942741	R309H	ENSG00000169083	ENST00000396043	ENSP00000379358	0.023	3.07	DELETERIOUS
rs9332969	66942741	R841H	ENSG00000169083	ENST00000374690	ENSP00000363822	0.051	2.26	TOLERATED
rs9332970	66942747	I311T	ENSG00000169083	ENST00000396043	ENSP00000379358	0.001	3.07	DELETERIOUS
rs9332970	66942747	I843T	ENSG00000169083	ENST00000374690	ENSP00000363822	0.004	2.33	DELETERIOUS
rs9332971	66942786	R856H	ENSG00000169083	ENST00000374690	ENSP00000363822	0	2.26	DELETERIOUS
rs9332971	66942786	R324H	ENSG00000169083	ENST00000396043	ENSP00000379358	0	3.07	DELETERIOUS
rs104894742	66764992	E2K	ENSG00000169083	ENST00000396044	ENSP00000379359	0.006	2.7	DELETERIOUS
rs104894742	66764992	E2K	ENSG00000169083	ENST00000374690	ENSP00000363822	0.007	2.88	DELETERIOUS
rs104894742	66764992	E2K	ENSG00000169083	ENST00000504326	ENSP00000421155	0.007	2.66	DELETERIOUS
rs112374098	66765259	Q91K	ENSG00000169083	ENST00000374690	ENSP00000363822	0.923	2.81	TOLERATED
rs112374098	66765259	Q91K	ENSG00000169083	ENST00000396044	ENSP00000379359	0.924	2.65	TOLERATED
rs112374098	66765259	Q91K	ENSG00000169083	ENST00000504326	ENSP00000421155	0.924	2.6	TOLERATED
rs137852562	66941679	R775C	ENSG00000169083	ENST00000374690	ENSP00000363822	0	2.27	DELETERIOUS
rs137852562	66941679	R243C	ENSG00000169083	ENST00000396043	ENSP00000379358	0	3.14	DELETERIOUS
rs137852563	66931515	W719*	ENSG00000169083	ENST00000374690	ENSP00000363822
rs137852563	66931515	W187*	ENSG00000169083	ENST00000396043	ENSP00000379358
rs137852563	66931515	W719*	ENSG00000169083	ENST00000396044	ENSP00000379359
rs137852564	66942818	V867M	ENSG00000169083	ENST00000374690	ENSP00000363822	0.401	2.26	TOLERATED
rs137852564	66942818	V335M	ENSG00000169083	ENST00000396043	ENSP00000379358	1	3.16	TOLERATED
rs137852564	66942818	V335L	ENSG00000169083	ENST00000396043	ENSP00000379358	0.596	3.16	TOLERATED
rs137852564	66942818	V867L	ENSG00000169083	ENST00000374690	ENSP00000363822	1	2.26	TOLERATED
rs137852565	66941747	W797*	ENSG00000169083	ENST00000374690	ENSP00000363822
rs137852565	66941747	W265*	ENSG00000169083	ENST00000396043	ENSP00000379358
rs137852566	66905854	K591*	ENSG00000169083	ENST00000374690	ENSP00000363822
rs137852566	66905854	K59*	ENSG00000169083	ENST00000396043	ENSP00000379358
rs137852566	66905854	K591*	ENSG00000169083	ENST00000396044	ENSP00000379359
rs137852566	66905854	K591*	ENSG00000169083	ENST00000504326	ENSP00000421155
rs137852567	66937437	Y764C	ENSG00000169083	ENST00000374690	ENSP00000363822	0.009	2.27	DELETERIOUS
rs137852567	66937437	Y232C	ENSG00000169083	ENST00000396043	ENSP00000379358	0.252	2.96	TOLERATED
rs137852568	66943570	K884*	ENSG00000169083	ENST00000374690	ENSP00000363822
rs137852568	66943570	K352*	ENSG00000169083	ENST00000396043	ENSP00000379358
rs137852568	66943570		ENSG00000169083	ENST00000396044	ENSP00000379359
rs137852569	66905872	A597T	ENSG00000169083	ENST00000374690	ENSP00000363822	0.001	2.29	DELETERIOUS
rs137852569	66905872	A597T	ENSG00000169083	ENST00000396044	ENSP00000379359	0.003	2.23	DELETERIOUS
rs137852569	66905872	A597T	ENSG00000169083	ENST00000504326	ENSP00000421155	0.004	2.22	DELETERIOUS
rs137852569	66905872	A65T	ENSG00000169083	ENST00000396043	ENSP00000379358	0.005	2.9	DELETERIOUS
rs137852570	66941718	M256V	ENSG00000169083	ENST00000396043	ENSP00000379358	0.002	3.06	DELETERIOUS
rs137852570	66941718	M788V	ENSG00000169083	ENST00000374690	ENSP00000363822	0.003	2.27	DELETERIOUS
rs137852571	66937337	V199M	ENSG00000169083	ENST00000396043	ENSP00000379358	0.028	2.95	DELETERIOUS
rs137852571	66937337	V731M	ENSG00000169083	ENST00000374690	ENSP00000363822	0.035	2.27	DELETERIOUS
rs137852572	66941680	R775H	ENSG00000169083	ENST00000374690	ENSP00000363822	0.001	2.27	DELETERIOUS
rs137852572	66941680	R243H	ENSG00000169083	ENST00000396043	ENSP00000379358	0.001	3.14	DELETERIOUS
rs137852573	66905906	R608Q	ENSG00000169083	ENST00000374690	ENSP00000363822	0.002	2.28	DELETERIOUS
rs137852573	66905906	R608Q	ENSG00000169083	ENST00000396044	ENSP00000379359	0.002	2.24	DELETERIOUS
rs137852573	66905906	R608Q	ENSG00000169083	ENST00000504326	ENSP00000421155	0.003	2.21	DELETERIOUS
rs137852573	66905906	R76Q	ENSG00000169083	ENST00000396043	ENSP00000379358	0.02	2.9	DELETERIOUS
rs137852574	66943530	C726G	ENSG00000169083	ENST00000396044	ENSP00000379359
rs137852574	66943530	I870M	ENSG00000169083	ENST00000374690	ENSP00000363822	0.008	2.26	DELETERIOUS
rs137852574	66943530	I338M	ENSG00000169083	ENST00000396043	ENSP00000379358	0.379	3.16	TOLERATED
rs137852575	66765166	Q60*	ENSG00000169083	ENST00000374690	ENSP00000363822
rs137852575	66765166	Q60*	ENSG00000169083	ENST00000396044	ENSP00000379359
rs137852575	66765166	Q60*	ENSG00000169083	ENST00000504326	ENSP00000421155
rs137852576	66905909	R609K	ENSG00000169083	ENST00000396044	ENSP00000379359	0	2.24	DELETERIOUS
rs137852576	66905909	R609K	ENSG00000169083	ENST00000504326	ENSP00000421155	0	2.21	DELETERIOUS
rs137852576	66905909	R77K	ENSG00000169083	ENST00000396043	ENSP00000379358	0.011	2.9	DELETERIOUS
rs137852576	66905909	R609K	ENSG00000169083	ENST00000374690	ENSP00000363822	0.015	2.28	DELETERIOUS
rs137852577	66942740	R841C	ENSG00000169083	ENST00000374690	ENSP00000363822	0	2.26	DELETERIOUS
rs137852577	66942740	R309C	ENSG00000169083	ENST00000396043	ENSP00000379358	0	3.07	DELETERIOUS
rs137852578	66943552	H733R	ENSG00000169083	ENST00000396044	ENSP00000379359
rs137852578	66943552	T346A	ENSG00000169083	ENST00000396043	ENSP00000379358	0.041	3.16	DELETERIOUS
rs137852578	66943552	T878A	ENSG00000169083	ENST00000374690	ENSP00000363822	0.059	2.26	TOLERATED
rs137852579	66931391	L678P	ENSG00000169083	ENST00000374690	ENSP00000363822	0	2.27	DELETERIOUS
rs137852579	66931391	L146P	ENSG00000169083	ENST00000396043	ENSP00000379358	0	2.94	DELETERIOUS
rs137852579	66931391	L678P	ENSG00000169083	ENST00000396044	ENSP00000379359	0	2.3	DELETERIOUS
rs137852580	66943553	H733Q	ENSG00000169083	ENST00000396044	ENSP00000379359
rs137852580	66943553	T346S	ENSG00000169083	ENST00000396043	ENSP00000379358	0.022	3.16	DELETERIOUS
rs137852580	66943553	T878S	ENSG00000169083	ENST00000374690	ENSP00000363822	0.169	2.26	TOLERATED
rs137852581	66943543	A730V	ENSG00000169083	ENST00000396044	ENSP00000379359
rs137852581	66943543	H875Y	ENSG00000169083	ENST00000374690	ENSP00000363822	0.008	2.26	DELETERIOUS
rs137852581	66943543	H343Y	ENSG00000169083	ENST00000396043	ENSP00000379358	0.172	3.16	TOLERATED
rs137852582	66943628	Q371R	ENSG00000169083	ENST00000396043	ENSP00000379358	0.015	3.15	DELETERIOUS
rs137852582	66943628	Q903R	ENSG00000169083	ENST00000374690	ENSP00000363822	0.056	2.26	TOLERATED
rs137852582	66943628		ENSG00000169083	ENST00000396044	ENSP00000379359
rs137852583	66931522	A722T	ENSG00000169083	ENST00000396044	ENSP00000379359	0.011	2.31	DELETERIOUS
rs137852583	66931522	A190T	ENSG00000169083	ENST00000396043	ENSP00000379358	0.073	2.95	TOLERATED
rs137852583	66931522	A722T	ENSG00000169083	ENST00000374690	ENSP00000363822	0.092	2.27	TOLERATED
rs137852584	66931301	S648N	ENSG00000169083	ENST00000396044	ENSP00000379359	0.347	2.36	TOLERATED
rs137852584	66931301	S648N	ENSG00000169083	ENST00000374690	ENSP00000363822	0.354	2.27	TOLERATED
rs137852584	66931301	S116N	ENSG00000169083	ENST00000396043	ENSP00000379358	0.369	2.96	TOLERATED
rs137852585	66931481	L708R	ENSG00000169083	ENST00000374690	ENSP00000363822	0	2.27	DELETERIOUS
rs137852585	66931481	L176R	ENSG00000169083	ENST00000396043	ENSP00000379358	0	2.96	DELETERIOUS
rs137852585	66931481	L708R	ENSG00000169083	ENST00000396044	ENSP00000379359	0	2.3	DELETERIOUS
rs137852586	66863220	C580F	ENSG00000169083	ENST00000374690	ENSP00000363822	0	2.29	DELETERIOUS
rs137852586	66863220	C48F	ENSG00000169083	ENST00000396043	ENSP00000379358	0	2.94	DELETERIOUS
rs137852586	66863220	C580F	ENSG00000169083	ENST00000396044	ENSP00000379359	0	2.23	DELETERIOUS
rs137852586	66863220	C580F	ENSG00000169083	ENST00000504326	ENSP00000421155	0	2.22	DELETERIOUS
rs137852587	66863229	F583Y	ENSG00000169083	ENST00000374690	ENSP00000363822	0	2.29	DELETERIOUS
rs137852587	66863229	F51Y	ENSG00000169083	ENST00000396043	ENSP00000379358	0	2.92	DELETERIOUS
rs137852587	66863229	F583Y	ENSG00000169083	ENST00000396044	ENSP00000379359	0	2.23	DELETERIOUS
rs137852587	66863229	F583Y	ENSG00000169083	ENST00000504326	ENSP00000421155	0	2.22	DELETERIOUS
rs137852588	66863126	P549S	ENSG00000169083	ENST00000396044	ENSP00000379359	0.008	2.3	DELETERIOUS
rs137852588	66863126	P549S	ENSG00000169083	ENST00000504326	ENSP00000421155	0.01	2.24	DELETERIOUS
rs137852588	66863126	P549S	ENSG00000169083	ENST00000374690	ENSP00000363822	0.012	2.34	DELETERIOUS
rs137852588	66863126	P17S	ENSG00000169083	ENST00000396043	ENSP00000379358	0.053	3.31	TOLERATED
rs137852589	66941699	M781I	ENSG00000169083	ENST00000374690	ENSP00000363822	0.053	2.27	TOLERATED
rs137852589	66941699	M249I	ENSG00000169083	ENST00000396043	ENSP00000379358	0.123	3	TOLERATED
rs137852590	66765509	L174*	ENSG00000169083	ENST00000374690	ENSP00000363822
rs137852590	66765509	L174*	ENSG00000169083	ENST00000396044	ENSP00000379359
rs137852590	66765509	L174*	ENSG00000169083	ENST00000504326	ENSP00000421155
rs137852591	66941751	Q267E	ENSG00000169083	ENST00000396043	ENSP00000379358	0.022	3.06	DELETERIOUS
rs137852591	66941751	Q799E	ENSG00000169083	ENST00000374690	ENSP00000363822	0.039	2.27	DELETERIOUS
rs137852592	66941779	M276T	ENSG00000169083	ENST00000396043	ENSP00000379358	0	3.06	DELETERIOUS
rs137852592	66941779	M808T	ENSG00000169083	ENST00000374690	ENSP00000363822	0.002	2.27	DELETERIOUS
rs137852593	66937326	R727L	ENSG00000169083	ENST00000374690	ENSP00000363822	0.001	2.27	DELETERIOUS
rs137852593	66937326	R195L	ENSG00000169083	ENST00000396043	ENSP00000379358	0.009	2.95	DELETERIOUS
rs137852594	66943587	S889S	ENSG00000169083	ENST00000374690	ENSP00000363822	0.875	2.26	TOLERATED
rs137852594	66943587	S357S	ENSG00000169083	ENST00000396043	ENSP00000379358	1	3.16	TOLERATED
rs137852594	66943587		ENSG00000169083	ENST00000396044	ENSP00000379359
rs137852595	66931495	L713F	ENSG00000169083	ENST00000374690	ENSP00000363822	0.002	2.27	DELETERIOUS
rs137852595	66931495	L181F	ENSG00000169083	ENST00000396043	ENSP00000379358	0.003	2.96	DELETERIOUS
rs137852595	66931495	L713F	ENSG00000169083	ENST00000396044	ENSP00000379359	0.003	2.3	DELETERIOUS
rs137852596	66863213	G578R	ENSG00000169083	ENST00000374690	ENSP00000363822	0	2.3	DELETERIOUS
rs137852596	66863213	G46R	ENSG00000169083	ENST00000396043	ENSP00000379358	0.002	2.97	DELETERIOUS
rs137852596	66863213	G578R	ENSG00000169083	ENST00000396044	ENSP00000379359	0.002	2.23	DELETERIOUS
rs137852596	66863213	G578R	ENSG00000169083	ENST00000504326	ENSP00000421155	0.002	2.22	DELETERIOUS
rs137852597	66942815	S334P	ENSG00000169083	ENST00000396043	ENSP00000379358	0.004	3.16	DELETERIOUS
rs137852597	66942815	S866P	ENSG00000169083	ENST00000374690	ENSP00000363822	0.01	2.26	DELETERIOUS
rs137852598	66942790	F325L	ENSG00000169083	ENST00000396043	ENSP00000379358	0.102	3.07	TOLERATED
rs137852598	66942790	F857L	ENSG00000169083	ENST00000374690	ENSP00000363822	0.171	2.26	TOLERATED
rs137852599	66931427	H690P	ENSG00000169083	ENST00000374690	ENSP00000363822	0.002	2.27	DELETERIOUS
rs137852599	66931427	H690P	ENSG00000169083	ENST00000396044	ENSP00000379359	0.003	2.3	DELETERIOUS
rs137852599	66931427	H158P	ENSG00000169083	ENST00000396043	ENSP00000379358	0.044	2.94	DELETERIOUS
rs137852600	66937377	G744E	ENSG00000169083	ENST00000374690	ENSP00000363822	0.006	2.27	DELETERIOUS
rs137852600	66937377	G212E	ENSG00000169083	ENST00000396043	ENSP00000379358	0.736	2.95	TOLERATED
rs137852600	66937377	G744V	ENSG00000169083	ENST00000374690	ENSP00000363822	0.005	2.27	DELETERIOUS
rs137852600	66937377	G212V	ENSG00000169083	ENST00000396043	ENSP00000379358	0.578	2.95	TOLERATED
rs137852601	66937368	S741C	ENSG00000169083	ENST00000374690	ENSP00000363822	0.001	2.27	DELETERIOUS
rs137852601	66937368	S209C	ENSG00000169083	ENST00000396043	ENSP00000379358	0.069	2.94	TOLERATED
rs143040492	66943532	A871V	ENSG00000169083	ENST00000374690	ENSP00000363822	1	2.26	TOLERATED
rs143040492	66943532	A339V	ENSG00000169083	ENST00000396043	ENSP00000379358	1	3.16	TOLERATED
rs143040492	66943532	C726C	ENSG00000169083	ENST00000396044	ENSP00000379359
rs201934623	66766162	P392S	ENSG00000169083	ENST00000396044	ENSP00000379359	0.09	2.28	TOLERATED
rs201934623	66766162	P392S	ENSG00000169083	ENST00000504326	ENSP00000421155	0.093	2.21	TOLERATED
rs201934623	66766162	P392S	ENSG00000169083	ENST00000374690	ENSP00000363822	0.148	2.42	TOLERATED
rs370215797	66765463	A159T	ENSG00000169083	ENST00000374690	ENSP00000363822	0.022	2.71	DELETERIOUS
rs370215797	66765463	A159T	ENSG00000169083	ENST00000396044	ENSP00000379359	0.234	2.66	TOLERATED
rs370215797	66765463	A159T	ENSG00000169083	ENST00000504326	ENSP00000421155	0.264	2.6	TOLERATED

Evolutionary analysis of coding SNPS

SNP	substitution	probability of deleterious effect	Prediction Score
rs1800053	A646D	probably benign	0.27
rs1800053	A646D	probably benign	0.27
rs9332969	R841H	probably damaging	0.57
rs9332970	I843T	probably damaging	0.57
rs9332969	R856H	probably damaging	0.85
rs104894742	E2K	possibly damaging	0.5
rs104894742	E2K	possibly damaging	0.5
rs104894742	E2K	possibly damaging	0.5
rs112374098	Q91K	possibly damaging	0.5
rs112374098	Q91K	possibly damaging	0.5
rs112374098	Q91K	possibly damaging	0.5
rs137852562	R775C	probably damaging	0.57
rs137852564	V867M	probably damaging	0.57
rs137852564	V867L	probably damaging	0.57
rs137852567	Y764C	probably damaging	0.57
rs137852569	A597T	probably damaging	0.57
rs137852569	A597T	probably damaging	0.57
rs137852569	A597T	probably damaging	0.57
rs137852570	M788V	possibly damaging	0.5
rs137852570	V731M	probably damaging	0.57
rs137852562	R775H	probably damaging	0.57
rs137852573	R608Q	probably damaging	0.85
rs137852573	R608Q	probably damaging	0.85
rs137852573	R608Q	probably damaging	0.85
rs137852574	I870M	probably damaging	0.57
rs137852576	R609K	probably damaging	0.85
rs137852576	R609K	probably damaging	0.85
rs137852576	R609K	probably damaging	0.85
rs137852577	R841C	probably damaging	0.57
rs137852578	T878A	probably damaging	0.57
rs137852579	L678P	probably damaging	0.85
rs137852579	L678P	probably damaging	0.85
rs137852580	T878S	probably damaging	0.57
rs137852581	H875Y	probably damaging	0.57
rs137852582	Q903R	probably damaging	0.57
rs137852583	A722T	probably damaging	0.57
rs137852583	A722T	probably damaging	0.57
rs137852584	S648N	possibly damaging	0.5
rs137852584	S648N	possibly damaging	0.5
rs137852585	L708R	probably damaging	0.78
rs137852585	L708R	probably damaging	0.78
rs137852586	C580F	probably damaging	0.85
rs137852586	C580F	probably damaging	0.85
rs137852586	C580F	probably damaging	0.85
rs137852586	F583Y	probably damaging	0.85
rs137852587	F583Y	probably damaging	0.85
rs137852587	F583Y	probably damaging	0.85
rs137852588	P549S	probably damaging	0.74
rs137852588	P549S	probably damaging	0.74
rs137852588	P549S	probably damaging	0.74
rs137852589	M781I	probably damaging	0.57
rs137852591	Q799E	probably damaging	0.57
rs137852592	M808T	probably damaging	0.57
rs137852593	R727L	probably damaging	0.57
rs137852594	S889S	probably damaging	0.57
rs137852595	L713F	probably damaging	0.85

Provean

SNP	AMINO ACID CHANGE	Probability	Prediction	Score
rs1800053	A114D	Neutral	Tolerated	-0.06
rs1800053	A646D	Neutral	Damaging	0.04
rs1800053	A646D	Neutral	Tolerated	-0.19
rs9332969	R309H	Deleterious	Damaging	-3.82
rs9332969	R841H	Deleterious	Damaging	-3.27
rs9332970	I311T	Deleterious	Damaging	-3.9
rs9332970	I843T	Deleterious	Damaging	-3.53
rs9332971	R856H	Deleterious	Damaging	-3.82
rs9332971	R324H	Deleterious	Damaging	-4.35
rs104894742	E2K	Neutral	Damaging	-1.18
rs104894742	E2K	Neutral	Damaging	-1.35
rs104894742	E2K	Neutral	Damaging	-1.32
rs112374098	Q91K	Neutral	Tolerated	-0.15
rs112374098	Q91K	Neutral	Damaging	-0.43
rs112374098	Q91K	Neutral	Damaging	-0.49
rs137852562	R775C	Deleterious	Damaging	-6.15
rs137852562	R243C	Deleterious	Damaging	-7.47
rs137852564	V867M	Neutral	Tolerated	-0.47
rs137852564	V335M	Neutral	Tolerated	-0.35
rs137852564	V335L	Neutral	Tolerated	0.58
rs137852564	V867L	Neutral	Tolerated	0.46
rs137852567	Y764C	Deleterious	Tolerated	-6.19
rs137852568	Y232C	Deleterious	Tolerated	-8.07
rs137852569	A597T	Deleterious	Damaging	-3
rs137852569	A597T	Neutral	Damaging	-2.46
rs137852569	A597T	Deleterious	Damaging	-2.61
rs137852570	A65T	Deleterious	Damaging	-3.35
rs137852570	M256V	Deleterious	Damaging	-3.67
rs137852571	M788V	Deleterious	Damaging	-3.02
rs137852571	V199M	Deleterious	Damaging	-2.77
rs137852572	V731M	Neutral	Damaging	-2.2
rs137852572	R775H	Deleterious	Damaging	-3.83
rs137852573	R243H	Deleterious	Damaging	-4.65
rs137852573	R608Q	Deleterious	Damaging	-3.09
rs137852573	R608Q	Deleterious	Damaging	-2.55
rs137852573	R608Q	Deleterious	Damaging	-2.75
rs137852574	R76Q	Deleterious	Damaging	-3.58

SNAP 2

Wildetype Amino Acid	Position	Variant Amino Acid	Predicted Effect	Score	Expected Accurancy
A	646	D	Effect	77	80%
A	646	D	Neutral	65	56%
R	841	H	Effect	35	35%
I	843	T	Neutral	87	96%
R	856	H	Effect	-40	75%
E	2	K	Effect	64	26%
E	2	K	Neutral	90	34%
E	2	K	Effect	39	85%
Q	91	K	Effect	73	26%
Q	91	K	Neutral	96	34%
Q	91	K	Neutral	35	85%
R	128	K	Effect	15	75%
V	775	C	Neutral	-29	95%
V	867	M	Neutral	57	65%
Y	867	L	Neutral	56	96%
A	764	C	Effect	66	36%
A	597	T	Effect	33	85%
A	597	T	Effect	26	45%
M	597	T	Neutral	85	25%
V	788	V	Neutral	56	75%
R	731	M	Effect	65	96%
R	775	Q	Effect	45	53%
R	608	Q	Effect	26	24%
R	608	Q	Neutral	26	16%
I	608	M	Neutral	-52	75%
R	870	K	Effect	96	69%
R	609	K	Effect	79	96%
R	609	K	Effect	96	34%
Y	609	C	Effect	56	82%
L	841	A	Neutral	25	80%
L	878	P	Neutral	36	90%
T	678	P	Neutral	24	80%
T	678	P	Effect	75	56%

Polyphen 2

Rs_Id	Mutation Probability	Score
rs1800053	Probably damaging	0.98
rs1800053	Possibly damaging	0.98
rs9332969	Possibly damaging	1.00
rs9332970	Probably damaging	0.999
rs9332969	Probably damaging	0.98
rs104894742	Possibly damaging	0.98
rs104894742	Possibly damaging	1.00
rs104894742	Probably damaging	0.999
rs112374098	Possibly damaging	1.00
rs112374098	Probably damaging	0.98
rs112374098	Possibly damaging	1.00
rs137852562	Probably damaging	0.999
rs137852564	Probably damaging	0.98
rs137852564	Possibly damaging	0.98
rs137852567	Possibly damaging	1.00
rs137852569	Probably damaging	0.999
rs137852569	Probably damaging	0.999
rs137852569	Possibly damaging	1.00
rs137852570	Probably damaging	0.98
rs137852570	Possibly damaging	0.98
rs137852562	Possibly damaging	1.00
rs137852573	Possibly damaging	1.00
rs137852573	Probably damaging	0.98
rs137852573	Possibly damaging	1.00
rs137852574	Probably damaging	0.999
rs137852576	Possibly damaging	1.00
rs137852576	Probably damaging	0.98
rs137852576	Probably damaging	0.98
rs137852577	Possibly damaging	0.98
rs137852578	Possibly damaging	1.00
rs137852579	Possibly damaging	0.999
rs137852579	Possibly damaging	1.00
rs137852580	Probably damaging	0.999
rs137852581	Probably damaging	0.999
rs137852582	Probably damaging	0.98
rs137852583	Possibly damaging	0.98
rs137852583	Possibly damaging	1.00
rs137852584	Possibly damaging	1.00
rs137852584	Possibly damaging	0.98
rs137852585	Possibly damaging	1.00
rs137852585	Probably damaging	0.999
rs137852586	Probably damaging	0.98
rs137852586	Possibly damaging	0.98
rs137852586	Probably damaging	0.98
rs137852586	Possibly damaging	0.98
rs137852587	Possibly damaging	1.00

Hope Prediction

Rs_Ids	Mutation	Mapping Issues	AA Variant	Function Impact	Score
rs1800053	AR_A646D		A646D	High	6.52
rs1800053	AR_A646D	Uniprot Residue:P	A646D	Medium	4.66
rs9332969	AR_R841H		R841H	Medium	4
rs9332970	AR_I843T	Uniprot Residue:M	I843T	Low	0.82
rs9332969	AR_R856H		R856H	Medium	5.23
rs104894742	AR_E2K		E2K	Medium	5.23
rs104894742	AR_E2K		E2K	Medium	2.62
rs104894742	AR_E2K		E2K	Medium	2.62
rs112374098	AR_Q91K		Q91K	Low	1.59
rs112374098	AR_Q91K		Q91K	Medium	2.16
rs112374098	AR_Q91K		Q91K	Medium	2.16
rs137852562	AR_R775C	Uniprot Residue:N	R775C	High	6.62
rs137852564	AR_V867M		V867M	High	6.62
rs137852564	AR_V867L		V867L	Medium	2.16
rs137852567	AR_Y764C		Y764C	High	6.25
rs137852569	AR_A597T		A597T	Medium	2.16
rs137852569	AR_A597T		A597T	Medium	2.29
rs137852569	AR_A597T		A597T	High	7.99
rs137852570	AR_M788V	Uniprot Residue:G	M788V	Medium	2.29
rs137852570	AR_V731M		V731M	High	6.99
rs137852562	AR_R775H		R775H	High	5.94
rs137852573	AR_R608Q		R608Q	High	5.94
rs137852573	AR_R608Q		R608Q	High	10.2
rs137852573	AR_R608Q	Uniprot Residue:V	R608Q	High	6.99
rs137852574	AR_I870M		I870M	Medium	2.16
rs137852576	AR_R609K		R609K	Medium	2.16
rs137852576	AR_R609K		R609K	High	10.2
rs137852576	AR_R609K		R609K	High	6.99
rs137852577	AR_R841C		R841C	Medium	4.88
rs137852578	AR_T878A	Uniprot Residue:G	T878A	High	5.94
rs137852579	AR_L678P		L678P	High	10.8
rs137852579	AR_L678P		L678P	Medium	4.88
rs137852580	AR_T878S		T878S	Medium	4.56
rs137852581	AR_H875Y	Uniprot Residue:M	H875Y	High	5.94
rs137852582	AR_Q903R		Q903R	High	5.94
rs137852583	AR_A722T		A722T	High	10.8
rs137852583	AR_A722T		A722T	Medium	2.9
rs137852584	AR_S648N		S648N	High	7.17
rs137852584	AR_S648N	Uniprot Residue:H	S648N	Medium	2.9
rs137852585	AR_L708R		L708R	Low	1.25
rs137852585	AR_L708R		L708R	Medium	3.42
rs137852586	AR_C580F		C580F	Low	1.25
rs137852586	AR_C580F		C580F	High	7.78

10. Active Site

Rank	C-Score	Cluster Size	PDB Hit	Lig Name	Consensus Building Residues
1	0.23	9	1xnnA	HYQ	705,706,708,709,712,743, 746,750,753,765,788, 874,877,878,896
2	0.11	5	4uhwA	FES	394,395,396,398,564,565, 566,568,576,578
3	0.07	3	2ckjD	FES	601,602,603,604,609, 610,612,613,615,620
4	0.04	2	4ltwA	486	713,717,721,731,734,735, 738,739,895,898,899
5	0.02	1	N/A	N/A	633,678,724,814
6	0.02	1	3zyvB	FES	572,573,580,581,620
7	0.02	1	N/A	N/A	406,407,408,415,551,573, 584,587,591,592,593,594, 596,600,602,604,613,614, 616,617,618,621,622,624, 625,627,628,654,669
8	0.02	1	N/A	N/A	721,727,729,731,734,738, 742,898

11. Primary Sequence Analysis

Number of amino acids

920

Molecular weight

99187.84

Theoretical pI

6.00

Amino acid composition

Ala (A) 81 8.8

Arg (R) 41 4.5

Asn (N) 20 2.2

Asp (D) 37 4.0

Cys (C) 27 2.9

Gln (Q) 71 7.7

Glu (E) 55 6.0

Gly (G) 96 10.4

His (H) 19 2.1

Ile (I) 23 2.5

Leu (L) 87 9.5

Lys (K) 40 4.3

Met (M) 22 2.4

Phe (F) 28 3.0

Pro (P) 74 8.0

Ser (S) 81 8.8

Thr (T) 37 4.0

Trp (W) 8 0.9

Tyr (Y) 33 3.6

Val (V) 40 4.3

Pyl (O) 0 0.0

Sec (U) 0 0.0

Total number of negatively charged residues (Asp + Glu)

Total number of positively charged residues (Arg + Lys)

Formula

C₄₃₄₂H₆₇₇₂N₁₂₂₀O₁₃₄₇S₄₉

Total number of atoms(12269)

13730

Instability index(II)

56.78

Stability

unstable

Aliphatic index(AI)

68.04

GRAVY

-0.439

12. Secondary structure analysis

Alpha helix (Hh) : 311 is 33.80%

310 helix (Gg) : 0 is 0.00%

Pi helix (Ii) : 0 is 0.00%

Beta bridge (Bb) : 0 is 0.00%

Extended strand (Ee) : 96 is 10.43%

Beta turn (Tt) : 68 is 7.39%

Bend region (Ss) : 0 is 0.00%

Random coil (Cc) : 445 is 48.37%

Ambiguous states (?) : 0 is 0.00%

Other states : 0 is 0.00%

Secondary Structure Prediction

Amino Acid Types

13. Enzymes

Name of enzyme	No. of cleavages
Arg-C proteinase	41
Asp-N endopeptidase	37
Asp-N endopeptidase + N-terminal Glu	92
BNPS-Skatole	8
CNBr	22
Chymotrypsin-high specificity (C-term to [FYW], not before P)	60
Chymotrypsin-low specificity (C-term to [FYWML], not before P)	176
Clostripain	41
Formic acid	37
Glutamyl endopeptidase	55
Iodosobenzoic acid	8
Hydroxylamine	38
Iodosobenzoic acid	46
LysC	40
LysN	40
NTCB (2-nitro-5-thiocyanobenzoic acid)	27
Pepsin (pH1.3)	158
Pepsin (pH>2)	203
Proline-endopeptidase	5
Proteinase K	392
Staphylococcal peptidase I	51
Thermolysin	226
Trypsin	77

14. Epitope

Rank	Start position	Sequence	Score	Prediction
1	886	HMVSVDFPEMMAEIIS	0.95	Epitope
2	519	CVKSEMGPWMDSYSGP	0.94	Epitope
3	511	RVPYPSPTCVKSEMGP	0.93	Epitope
4	277	PAVRPTPCAPLAECKG	0.92	Epitope
5	359	YQSRDYYNFPLALAGP	0.91	Epitope
5	101	RRGPTGYLVLDEEQQP	0.91	Epitope
6	540	LETARDHVLPIDYYFP	0.90	Epitope
7	839	LDRIIACKRKNPTSCS	0.89	Epitope
7	799	QITPQEFLCMKALLLF	0.89	Epitope
7	612	CPSCRLRKCYEAGMTL	0.89	Epitope
7	546	HVLPIDYYFPPQKTCL	0.89	Epitope
7	41	HPEAASAAPPGASLLL	0.89	Epitope
7	31	REVIQNPGPRHPEAAS	0.89	Epitope
7	146	PQQLPAPPDEDDSAAP	0.89	Epitope

15. Protein-Protein Interaction

No of Nodes	11
No of Edges	33
Avg node degree	6
avg. local clustering coefficient	0.649
expected number of e, dges	16
p-value	0.000139
Protein – Protein Interaction network

16. MRNA

RNA Base Pairing Probability Plot