Disease Name: Distal renal tubular acidosis
>sp|P02730|B3AT_HUMAN Band 3 anion transport protein OS=Homo sapiens OX=9606 GN=SLC4A1 PE=1 SV=3
MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVE
LQELVMDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVL
LDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLKHSHAGELEALGGVKPAVLTR
SGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQP
VLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYM
AQSRGELLHSLEGFLDCSLVLPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYK
GLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITDAFSPQVLAAVIFIYFAALSPA
ITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCE
TNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKL
IKIFQDHPLQKTYNYNVLMVPKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGK
LRRVIGDFGVPISILIMVLVDFFIQDTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFP
IWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFG
MPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPIL
SRIPLAVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQ
IICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEG
RDEYDEVAMPV
>NC_000017.11:c44268135-44248390 Homo sapiens chromosome 17, GRCh38.p14 Primary Assembly
AGAACGAGTGGGAACGTAGCTGGTCGCAGAGGGCACCAGCGGCTGCAGGACTTCACCAAGGGACCCTGAG
GCTCGTGAGCAGGTGGGCAGGGCAGGGAGGGGCTGGGGATGGTCCTTCGGTGCCTGCCCTGAGGGCTTCT
ACAGGTGCCCAGCCTGAATCTATGCCCAGGTGGGCCAGGCTCCTGACCTCCAAGGGGGTGCAGGTGGGTG
GGGTGAGAATGTTACCATGCATATGTTGCCCCTAAGGGAACAGGCCCATTGGCACCTGAAAAGAGGAGGG
TGGCAGGTGGTCAATGGCAGCAGAGGTATGTGTGGCTCCGGTGCGTGTGTTGCGGGGGGTATCTGATCCC
CTCCAGGTATGGGCCCTTGTCAGCTTGTTGGATCCCACAGGGTCAGGTCTTGTCCACCCCAGACTCCTTC
CTTCCTAATGGGGTCCTCAGACCACCCCCTCTCCCACCTAGGAGGCAGGATGTCAGCTGACACAGTATCC
CCTTTGGGACACTTCCAGGGGTCTACCTGGGGCACCTGGCTCCACGCCCAGCGTGGTCAGTATTGGAGGG
AACTGCAGAGCCTCCTACCACATGAGAATCTCAAAACACTTAGCTCAGGCTAATTCCATGGGAACTGAGG
GCAAATCAGAGGGGAAATGAAGATGGCAAGTCTGACTGTAACCCCAGCAGCAAGGGATAATGACAGCAAA
CATTTTCATAGCGCTCCTTATATGCTAGGCACTGTTCTAAGCCCCTTACAAATGTAAATTTCCTTAATGC
TTACAACAGGTCTATGAGATGGGCATCATTATCATCACCCCCATTTTACAGATGAGAAAACTGAGGCACA
GAGAGTTGAAGTCACACGCCGTTAGTAAATGGCAGGGCTGGGCTTTGAATCCAGGCAGTCCGACTGCAGA
GTCCGTGATCTTAACAACTAACTCTAAACCAGCTAACAGTTGTTTTGTTGGAGGCAACTTAGCATAGTGC
TTAGGGATGTGGCTGGAGTCAGGTAGTCCAGGCTGTAACCTGGCTCTGATACCTACCTGCTGGGTGGCTG
AAGCAGGTAAATGTCTCTGAACCTCAGCTTTCGCATCTGTAGAATGGATTAATGACATTACTCTTCTTCC
TCTTAGAATCCCCAAACCACTTCACAGAATGCTTTGGGGATTCTAAGAGTTAAGGCAGTACAGTTCTTTG
TGCAGTTCGGGCTGATTACACAAAGGTGGTGCCATACCACTAGGAAGTTGTCCCTGTCATCTGGTCAATC
CCCTCTCCCGCCGTGTCTTCCCAGCTGTGCTATACCTTCTAGGCTCAGATGTCCCGCTCACCCTTATCTG
GCCTGGCCCTGGCCAGCTGGCTAGCTGGCCAGGTGTTTGGTGCACTTCCAAAACTTGGGGCAGCGATCTG
GGTCCAGGCCCTTATCAGTGCTAGGCAGCACAAGGCCTGCAGCTGGGGGGCGGCCTGGCTGGCGGGTGGC
AATCTGGGTCATGGGTGCGCCCTGTAAGTCTCCAACTGAGCTCAAGGCACCTCTGTTTTCCCCTCTTCTC
TCTCACTGATGTCTCAGAACCCTGGCAGGAAGGCACTCCCATTGTACAGATGGGGTGACTGAGGCCTACA
GGCTGGAAGCTGCCCAAGGCCCTTCAGCCAGTCAGTGGCAGAGAGGCAGCCTGGACCTCTGGATTCTGCA
GCTCTGAGGGCCCCTCTGACCATTCCACTCCTCAGATAGGCAACCAAGGCCACAGTCCCAGCCCCATGGG
TGGGACTTTTAGTACCTAAGGCTTAGACACCCTGGAGGCCTTAGCATCTGAGGCCTAAGAAAGTGCATGG
GCAAGTCCAGAGAAGGAAGAAAGTGAATAAAGATGGAAGAGAAAGAGGAACTTTGGGAGAAGCAGAGAGG
GAGGAGGAAAAAGAGAGAGAAGAGGTGGGTCATCAGGGTCCTCAGGAGCAAAGCCAAGCCCTGCAGTAGG
GACTACCTCGTCCTCAGGTCCAGGACCCCTCCCCCGCACCCCATCACTTGCCCCACCTGCCAAGGCAGGG
GTCTCTCCCATTCTCCAGTCTGGTGAGATCCAGTAATCCCCTCCCTACCCCCAGGACTGCAGGGTCACCC
ATTCCTCAGAAAGAAGGCTGTTTGCACATCCCTTTCTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCG
CTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCTGCCCCCTGGTTCAAGG
GATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTTG
TATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTCCCTGCCCCATGCCCTCACGTGGCATTTT
CCCACCTTGCTCAGCCCACCTGTTCAGCTCCACCCAGGCATGCCTCACATCTGGACTCCCAGCCCTTCAC
ATCTCACCAGTGCTTGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGG
GTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAAA
TACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA
ATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGACTGGGAGAG
AGAGCAAGACTGTGTCTCAAAAACAAGAAAAACTCACCTGTGTTTTTAGGCTAGCGCCAGTGACCCCTCC
TCCGGTGACTCCACCCCCGAGTGCTGCAAACGCGTCCTGCTCTTCTTCCTGCCATACAGATCCTTGGCAC
TCAGCACTTTCGGCCCCTGGGGTCCATGTCACCTCGGAAGCACTGAGGCTGCCCTGTGTTCCCAGTTTGC
CTCCCTGTCGCGGCTAGGAGCTTCCCCAGAGTAGAGACGGGCCTTGTTCAGCTCAGCACCCCCTCCCACC
AGCCCCCAGTGCTCAGCACCCCCTCCCACCAGCCCCCAGTGATCAGCAGCCCCTCCCCACAGCCCCCAGT
GCTCGGCACCCCCTCCCACAGCCCCCAGTGCTCAGCACCCCCTCCCCACAGCCCCCAGTGCTCGGCACCC
CCTCCCCACAGCCTCCAGTGCTCAACACAATGCCAGGCACAGAGTGGGAACCTTTGTTGAACCGACCCAA
TTGCCTGTCACCTCAATGCCCTGTGCTGTAGTGGGCGAGGAGGGAAAAGAGGCACCTCCACACCCAGTCT
GGGGCCACCTTAGGTGACCCCTGTCCTCCCCTTGGACCTGCCCTCACATTCCTGGGGAAGGCACACCTTC
CTCTCTGCTAGGGACACAACTGAGAAAACTGAGACCCCGAGCTCAGAGGCCTCTTGGCTGGGGCCTAGTC
ATCCTGGCTCCCCAGTCTCAGAGCCCCAACCCCGCAATAGGGAGCCATTCTTACAATCATTCAGTAAATG
TTTATTGAGCACCTACTACGTGACAGCCACTCTGCTAGGAGTAGTGAATTTCGTGGGGATGGGACATACA
GGGTCTTCGCACTCAGGTAGTTTCCCTTCCAAAAGCATTGTCAGATAATATGAACACAAATCAATCAAGA
AACCACGTATTGGTTTTTTTGTTTTGTTTTGTTTTCCTTCTAAAGAGTCTCACTCTGTCACCCAGGCTGG
AGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGCTTAGGCAATCCTCCCACCTCAGC
CTCTCAAGTAGCTGGGACTACAGGTATACGTCACCACACCCAGCTAATTTTTGTATTTTTGTAGACATGT
GGTTTCACTATGTTGCCCAGTTGGTCTCGGACTCCTGAGCTCAAGCAATCTGCCTGCCTCAGCCTCCCAA
AATGTTAGGATTACAGGTGTGAGCCACCACGCCCAACCAAGAAACCATTTAAAAATTAGTCAGGCATGGT
GGTGTGTGCTAGCTACTCTGGAGGCTGAGGTGGGAGGTTCACTTAAGTCTAGGAGTTTGAGACTGATGTG
AGCTGTAATCATGCCACTGCATTCTAGCCTGGATAACAGAGGGAGACCCGCTCTCAAAAAAATAAAAAAG
AAGAAAGAAATCAGCAGCCCACACTGAGATAGTGAGACCCTGTTTCTACACACAGATTTTTTTTTTTTTA
ATTACCTGGGCACTGTGGCATGCCTATAATTCCAGTTACTCAGGAGGCTGGGCCAGGAGGATCCCTGGGG
Pfam (2 motifs)
Pfam |
Position(Independent E-value) |
Description |
HCO3_cotransp |
378..555(1.1e-78) 564..889(2.5e-135) |
PF00955, HCO3- transporter integral membrane domain |
Band_3_cyto |
55..328(5.4e-114) |
PF07565, Band 3 cytoplasmic domain |
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 (-16423.82) 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 1074 positions in the final dataset.
SNP |
COORDINATE |
AMINO ACID CHANGE |
GENE ID |
TRANSCRIPT ID |
PROTEIN ID |
SIFT SCORE |
SIFT MEDIAN |
SIFT PREDICTION |
rs5036 |
42338945 |
K56E |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
1 |
2.98 |
TOLERATED |
rs2285644 |
42328621 |
P854L |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.073 |
2.87 |
TOLERATED |
rs13306787 |
42338150 |
E68K |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.182 |
2.96 |
TOLERATED |
rs28929480 |
42338084 |
E90K |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.158 |
2.98 |
TOLERATED |
rs28931583 |
42335888 |
P327R |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.055 |
2.91 |
TOLERATED |
rs28931584 |
42334882 |
V488M |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.019 |
2.92 |
DELETERIOUS |
rs28931585 |
42328574 |
R870W |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0 |
2.86 |
DELETERIOUS |
rs121912741 |
42328956 |
G771D |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.003 |
2.9 |
DELETERIOUS |
rs121912742 |
42335880 |
Q330* |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
|
|
|
rs121912744 |
42333075 |
R589H |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.001 |
2.86 |
DELETERIOUS |
rs121912745 |
42333076 |
R589C |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0 |
2.86 |
DELETERIOUS |
rs121912745 |
42333076 |
R589S |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.001 |
2.86 |
DELETERIOUS |
rs121912746 |
42332627 |
S613F |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.001 |
2.86 |
DELETERIOUS |
rs121912748 |
42330695 |
G701D |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.003 |
2.87 |
DELETERIOUS |
rs121912751 |
42328609 |
A858D |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.001 |
2.87 |
DELETERIOUS |
rs121912753 |
42328951 |
S773P |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.002 |
2.9 |
DELETERIOUS |
rs121912754 |
42332660 |
R602P |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0 |
2.86 |
DELETERIOUS |
rs121912755 |
42330518 |
R760Q |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0 |
2.93 |
DELETERIOUS |
rs121912757 |
42331984 |
R646Q |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.002 |
2.86 |
DELETERIOUS |
rs121912758 |
42331985 |
R646W |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0 |
2.86 |
DELETERIOUS |
rs121912759 |
42328579 |
P868L |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0.002 |
2.86 |
DELETERIOUS |
rs373916826 |
42330519 |
R760W |
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
0 |
2.93 |
DELETERIOUS |
rs387906565 |
42340296 |
|
ENSG00000004939 |
ENST00000262418 |
ENSP00000262418 |
|
|
|
Evolutionary analysis of coding SNPs
SNP |
Substitution |
Probability of deleterious effect |
Prediction Score |
rs5036 |
K56E |
probably benign |
0.02 |
rs2285644 |
P854L |
probably damaging |
0.57 |
rs13306787 |
E68K |
probably benign |
0.27 |
rs28929480 |
E90K |
possibly damaging |
0.5 |
rs28931583 |
P327R |
possibly damaging |
0.5 |
rs28931584 |
V488M |
probably damaging |
0.57 |
rs28931585 |
R870W |
probably damaging |
0.89 |
rs121912741 |
G771D |
probably damaging |
0.86 |
rs121912742 |
R589H |
probably damaging |
0.86 |
rs121912744 |
R589C |
probably damaging |
0.86 |
rs121912745 |
R589S |
probably damaging |
0.86 |
rs121912745 |
S613F |
possibly damaging |
0.5 |
rs121912746 |
G701D |
probably damaging |
0.86 |
rs121912748 |
A858D |
probably damaging |
0.86 |
rs121912751 |
S773P |
probably damaging |
0.86 |
rs121912753 |
R602P |
probably damaging |
0.89 |
rs121912754 |
R760Q |
probably damaging |
0.89 |
rs121912755 |
R646Q |
probably damaging |
0.86 |
rs121912757 |
R646W |
probably damaging |
0.86 |
rs121912758 |
P868L |
probably damaging |
0.89 |
rs121912759 |
R760W |
probably damaging |
0.89 |
Provean
SNP Id’s |
Amino Acid Change |
Probability |
Prediction |
Score |
rs5036 |
K56E |
Neutral |
Tolerated |
2.13 |
rs2285644 |
P854L |
Deleterious |
Damaging |
-2.86 |
rs13306787 |
E68K |
Neutral |
Tolerated |
-0.99 |
rs28929480 |
E90K |
Deleterious |
Damaging |
-2.71 |
rs28931583 |
P327R |
Neutral |
Damaging |
-2.27 |
rs28931584 |
V488M |
Neutral |
Damaging |
-2.17 |
rs28931585 |
R870W |
Deleterious |
Damaging |
-6.38 |
rs121912741 |
G771D |
Deleterious |
Damaging |
-6.02 |
rs121912744 |
R589H |
Deleterious |
Damaging |
-4.71 |
rs121912745 |
R589C |
Deleterious |
Damaging |
-7.51 |
rs121912745 |
R589S |
Deleterious |
Damaging |
-5.64 |
rs121912746 |
S613F |
Deleterious |
Damaging |
-3.95 |
rs121912748 |
G701D |
Deleterious |
Damaging |
-6.14 |
rs121912751 |
A858D |
Deleterious |
Damaging |
-4.96 |
rs121912753 |
S773P |
Deleterious |
Damaging |
-4.3 |
rs121912754 |
R602P |
Deleterious |
Damaging |
-6.3 |
rs121912755 |
R760Q |
Deleterious |
Damaging |
-3.44 |
rs121912757 |
R646Q |
Deleterious |
Damaging |
-3.59 |
rs121912758 |
R646W |
Deleterious |
Damaging |
-7.18 |
rs121912759 |
P868L |
Deleterious |
Damaging |
-8.42 |
rs373916826 |
R760W |
Deleterious |
Damaging |
-6.88 |
SNAP2
Wildetype Amino Acid |
Position |
Variant Amino Acid |
Predicted Effect |
Score |
Expected Accurancy |
T |
56 |
K |
Effect |
26 |
90% |
T |
854 |
K |
Effect |
98 |
80% |
T |
68 |
K |
Effect |
67 |
75% |
T |
90 |
K |
Effect |
34 |
26% |
T |
327 |
K |
Effect |
26 |
98% |
E |
488 |
V |
Effect |
59 |
78% |
E |
870 |
V |
Effect |
96 |
85% |
N |
771 |
V |
Effect |
36 |
55% |
N |
589 |
D |
Effect |
78 |
55% |
N |
589 |
D |
Neutral |
26 |
45% |
N |
589 |
D |
Neutral |
68 |
65% |
N |
613 |
D |
Effect |
26 |
98% |
N |
701 |
D |
Neutral |
-29 |
65% |
L |
858 |
V |
Neutral |
57 |
32% |
L |
773 |
V |
Neutral |
56 |
65% |
L |
602 |
V |
Effect |
78 |
65% |
L |
760 |
V |
Effect |
69 |
23% |
L |
646 |
V |
Effect |
98 |
36% |
M |
646 |
T |
Neutral |
56 |
36% |
M |
868 |
T |
Neutral |
56 |
56% |
M |
760 |
T |
Neutral |
65 |
78% |
Polyphen 2
Rs_Id |
Mutation Probability |
Score |
rs5036 |
Probably damaging |
0.999 |
rs2285644 |
Probably damaging |
0.999 |
rs13306787 |
Possibly damaging |
1.00 |
rs28929480 |
Probably damaging |
0.98 |
rs28931583 |
Probably damaging |
0.98 |
rs28931584 |
Possibly damaging |
1.00 |
rs28931585 |
Possibly damaging |
0.98 |
rs121912741 |
Possibly damaging |
1.00 |
rs121912744 |
Probably damaging |
0.999 |
rs121912745 |
Probably damaging |
0.98 |
rs121912745 |
Possibly damaging |
0.98 |
rs121912746 |
Possibly damaging |
1.00 |
rs121912748 |
Probably damaging |
0.98 |
rs121912751 |
Possibly damaging |
1.00 |
rs121912753 |
Probably damaging |
0.999 |
rs121912754 |
Probably damaging |
0.999 |
rs121912755 |
Possibly damaging |
1.00 |
rs121912757 |
Probably damaging |
0.98 |
rs121912758 |
Probably damaging |
0.98 |
rs121912759 |
Probably damaging |
0.98 |
rs373916826 |
Possibly damaging |
1.00 |
rs5036 |
Probably damaging |
0.999 |
rs2285644 |
Possibly damaging |
1.00 |
rs13306787 |
Probably damaging |
1.00 |
rs28929480 |
Probably damaging |
0.98 |
rs28931583 |
Probably damaging |
0.999 |
rs28931584 |
Probably damaging |
0.999 |
rs28931585 |
Possibly damaging |
1.00 |
rs121912741 |
Probably damaging |
0.98 |
rs121912744 |
Probably damaging |
0.98 |
rs121912745 |
Possibly damaging |
1.00 |
rs121912745 |
Possibly damaging |
0.98 |
rs121912746 |
Possibly damaging |
1.00 |
rs121912748 |
Probably damaging |
0.999 |
rs121912751 |
Probably damaging |
0.98 |
rs121912753 |
Possibly damaging |
0.98 |
rs121912754 |
Possibly damaging |
1.00 |
rs121912755 |
Probably damaging |
0.98 |
Hope Prediction
Rs_Ids |
Mutation |
Mapping Issues |
AA Variant |
Function Impact |
Score |
rs5036 |
SLC4A __K56E |
|
K56E |
Medium |
4.96 |
rs2285644 |
SLC4A __P854L |
Uniprot Residue:C |
P854L |
High |
5.94 |
rs13306787 |
SLC4A __E68K |
|
E68K |
High |
10.99 |
rs28929480 |
SLC4A __E90K |
|
E90K |
Low |
0.32 |
rs28931583 |
SLC4A __P327R |
|
P327R |
Low |
1.5 |
rs28931584 |
SLC4A __V488M |
|
V488M |
High |
5.02 |
rs28931585 |
SLC4A __R870W |
|
R870W |
High |
6.73 |
rs121912741 |
SLC4A __G771D |
Uniprot Residue:P |
G771D |
Low |
0.58 |
rs121912744 |
SLC4A _R589H |
|
R589H |
Medium |
4.66 |
rs121912745 |
SLC4A _ SLC4A _R589C |
|
R589C |
Medium |
3.67 |
rs121912745 |
SLC4A _R589S |
|
R589S |
Medium |
2.86 |
rs121912746 |
SLC4A _S613F |
|
S613F |
Low |
0.22 |
rs121912748 |
SLC4A _G701D |
Uniprot Residue:I |
G701D |
Low |
1.5 |
rs121912751 |
SLC4A _A858D |
|
A858D |
High |
5.02 |
rs121912753 |
SLC4A _S773P |
|
S773P |
High |
6.73 |
rs121912754 |
SLC4A _R602P |
|
R602P |
High |
6.09 |
rs121912755 |
SLC4A _R760Q |
Uniprot Residue:A |
R760Q |
High |
9.32 |
rs121912757 |
SLC4A _R646Q |
|
R646Q |
Medium |
3.96 |
rs121912758 |
SLC4A _R646W |
|
R646W |
Low |
0.12 |
rs121912759 |
SLC4A _P868L |
Uniprot Residue:M |
P868L |
High |
6.68 |
Nil
Number of amino acids
|
911 |
Molecular weight
|
101792.33
|
Theoretical pI
|
5.08
|
Amino acid composition
|
Ala (A) 63 6.9%
Arg (R) 45 4.9%
Asn (N) 15 1.6%
Asp (D) 41 4.5%
Cys (C) 5 0.5%
Gln (Q) 41 4.5%
Glu (E) 65 7.1%
Gly (G) 62 6.8%
His (H) 18 2.0%
Ile (I) 49 5.4%
Leu (L) 136 14.9%
Lys (K) 29 3.2%
Met (M) 24 2.6%
Phe (F) 55 6.0%
Pro (P) 56 6.1%
Ser (S) 58 6.4%
Thr (T) 43 4.7%
Trp (W) 11 1.2%
Tyr (Y) 23 2.5%
Val (V) 72 7.9%
Pyl (O) 0 0.0%
Sec (U) 0 0.0%
|
Total number of negatively charged residues (Asp + Glu)
|
106
|
Total number of positively charged residues (Arg + Lys)
|
74
|
Formula
|
C4673H7314N1178O1304S29
|
Total number of atoms
|
14498
|
Instability index(II)
|
48.22
|
Stability
|
unstable
|
Aliphatic index(AI)
|
109.03
|
GRAVY
|
0.213
|
Alpha helix (Hh) : 464 is 50.93% 310 helix (Gg) : 0 is 0.00% Pi helix (Ii) : 0 is 0.00% Beta bridge (Bb) : 0 is 0.00% Extended strand (Ee) : 77 is 8.45% Beta turn (Tt) : 0 is 0.00% Bend region (Ss) : 0 is 0.00% Random coil (Cc) : 370 is 40.61% 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 |
45 |
Asp-N endopeptidase |
41 |
Asp-N endopeptidase + N-terminal Glu |
106 |
BNPS-Skatole |
11 |
CNBr |
24 |
Chymotrypsin-high specificity (C-term to [FYW], not before P) |
84 |
Chymotrypsin-low specificity (C-term to [FYWML], not before P) |
248 |
Clostripain |
45 |
Formic acid |
41 |
Glutamyl endopeptidase |
65 |
Iodosobenzoic acid |
11 |
Hydroxylamine |
3 |
LysC |
29 |
LysN |
29 |
NTCB (2-nitro-5-thiocyanobenzoic acid) |
5 |
Pepsin (pH1.3) |
280 |
Pepsin (pH>2) |
316 |
Proline-endopeptidase |
10 |
Proteinase K |
517 |
Staphylococcal peptidase I |
56 |
Thermolysin |
340 |
Trypsin |
65 |
Rank |
Start position |
Sequence |
Score |
Prediction |
1 |
273 |
APHIDYTQLGRAAATL |
0.97 |
Epitope |
2 |
2 |
EELQDDYEDMMEENLE |
0.91 |
Epitope |
3 |
213 |
PSGILEKIPPDSEATL |
0.90 |
Epitope |
4 |
722 |
PWLSATTVRSVTHANA |
0.89 |
Epitope |
4 |
46 |
YHTTSHPGTHKVYVEL |
0.89 |
Epitope |
5 |
845 |
AVLWVVKSTPASLALP |
0.87 |
Epitope |
5 |
547 |
HPLQKTYNYNVLMVPK |
0.87 |
Epitope |
5 |
285 |
AATLMSERVFRIDAYM |
0.87 |
Epitope |
6 |
732 |
VTHANALTVMGKASTP |
0.86 |
Epitope |
7 |
895 |
FDEEEGRDEYDEVAMP |
0.85 |
Epitope |
7 |
815 |
PPKYHPDVPYVKRVKT |
0.85 |
Epitope |
7 |
621 |
DFFIQDTYTQKLSVPD |
0.85 |
Epitope |
7 |
528 |
ISLIFIYETFSKLIKI |
0.85 |
Epitope |
7 |
380 |
GGLVRDIRRRYPYYLS |
0.85 |
Epitope |
8 |
880 |
NVELQCLDADDAKATF |
0.83 |
Epitope |
8 |
506 |
AFEGSFLVRFISRYTQ |
0.83 |
Epitope |
8 |
419 |
PAITFGGLLGEKTRNQ |
0.83 |
Epitope |
8 |
349 |
SSPAKPDSSFYKGLDL |
0.83 |
Epitope |
8 |
206 |
GGTEGHSPSGILEKIP |
0.83 |
Epitope |
9 |
685 |
TTLIVSKPERKMVKGS |
0.82 |
Epitope |
9 |
18 |
QEEYEDPDIPESQMEE |
0.82 |
Epitope |
10 |
602 |
RRVIGDFGVPISILIM |
0.81 |
Epitope |
11 |
89 |
GENGAWGRPHLSHLTF |
0.80 |
Epitope |
11 |
790 |
GIFLYMGVTSLSGIQL |
0.80 |
Epitope |
11 |
477 |
SFCETNGLEYIVGRVW |
0.80 |
Epitope |
11 |
304 |
RGELLHSLEGFLDCSL |
0.80 |
Epitope |
11 |
28 |
ESQMEEPAAHDTEATA |
0.80 |
Epitope |
11 |
221 |
PPDSEATLVLVGRADF |
0.80 |
Epitope |
No of Nodes |
11 |
No of Edges |
39 |
Avg node degree |
7.09 |
avg. local clustering coefficient |
0.818 |
expected number of e, dges |
10 |
p-value |
4.89e-12 |
Protein – Protein Interaction network |
|
RNA Base Pairing Probability Plot