General Structure Information
| PDB ID | 1znc |
| HGNC Gene Label(s) | CA4 |
| Structure Name | human carbonic anhydrase iv |
| Resolution | 2.8Å |
| Reference | AUTH T.STAMS,S.K.NAIR,T.OKUYAMA,A.WAHEED,W.S.SLY,AUTH 2 D.W.CHRISTIANSONTITL CRYSTAL STRUCTURE OF THE SECRETORY FORM OFTITL 2 MEMBRANE-ASSOCIATED HUMAN CARBONIC ANHYDRASE IV ATTITL 3 2.8-A RESOLUTION.REF PROC.NATL.ACAD.SCI.USA V. 93 13589 1996REFN ISSN 0027-8424PMID 8942978DOI 10.1073/PNAS.93.24.13589 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 233 |
| Number Of SNVs | 74 |
| Number Of Permutations | 27306 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.061 |
| p-value | 0.399 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 17:58232689 | Y>H | B:7 | (20.38, -18.17, 27.18) | |
| 17:58232690 | rs556598729 | Y>C | B:7 | (20.38, -18.17, 27.18) |
| 17:58233930 | K>R | B:15 | (28.28, -10.18, 32.29) | |
| 17:58233936 | rs563335203 | G>V | B:20 | (28.15, -8.38, 23.64) |
| 17:58233948 | Q>R | B:24 | (24.94, -3.61, 26.06) | |
| 17:58233953 | D>N | B:26 | (19.77, 2.28, 23.58) | |
| 17:58233957 | COSM4068354 | R>H | B:27 | (16.53, 0.51, 18.18) |
| 17:58233969 | I>N | B:31 | (9.72, -5.32, 25.53) | |
| 17:58233970 | I>M | B:31 | (9.72, -5.32, 25.53) | |
| 17:58233983 | T>A | B:36 | (-2.98, 0.35, 28.39) | |
| 17:58234002 | K>T | B:42 | (-7.63, 3.77, 11.12) | |
| 17:58234017 | rs202023904 | F>C | B:47 | (-0.08, -9.53, 8.49) |
| 17:58234034 | COSM3520333 | D>N | B:52 | (-0.60, -23.01, 2.81) |
| 17:58234043 | rs531909330 | Q>K | B:55 | (6.90, -28.77, 3.19) |
| 17:58234047 | T>M | B:56 | (9.69, -31.70, 4.24) | |
| 17:58234061 | N>Y | B:61 | (19.85, -29.03, 19.00) | |
| 17:58234062 | N>T | B:61 | (19.85, -29.03, 19.00) | |
| 17:58234067 | G>R | B:63 | (22.05, -25.38, 21.34) | |
| 17:58234809 | rs370036524 | K>T | B:76 | (11.20, -23.62, 1.14) |
| 17:58234844 | Y>H | B:88 | (9.76, -8.33, 5.11) | |
| 17:58234853 | K>E | B:91 | (15.66, -16.54, 5.38) | |
| 17:58234860 | rs201915875 | L>S | B:93 | (11.19, -21.29, 13.24) |
| 17:58234868 | H>Y | B:96 | (12.67, -18.87, 23.08) | |
| 17:58234872 | COSM3958614 | W>S | B:97 | (12.10, -23.96, 25.72) |
| 17:58234877 | rs373844529 COSM279506 |
D>N | B:99 | (9.77, -25.78, 33.40) |
| 17:58234893 | G>A | B:104 | (8.52, -18.62, 29.19) | |
| 17:58234896 | S>L | B:105 | (7.85, -15.48, 27.83) | |
| 17:58234898 | rs376816367 | E>K | B:106 | (11.61, -13.51, 25.39) |
| 17:58234901 | H>Y | B:107 | (8.46, -10.22, 24.12) | |
| 17:58234906 | S>R | B:108 | (5.72, -8.95, 28.65) | |
| 17:58234929 | M>T | B:116 | (6.22, -21.32, 24.99) | |
| 17:58234930 | M>I | B:116 | (6.22, -21.32, 24.99) | |
| 17:58235051 | rs185658468 | M>L | B:118 | (6.87, -18.72, 18.12) |
| 17:58235057 | I>L | B:120 | (8.53, -16.46, 12.69) | |
| 17:58235058 | I>T | B:120 | (8.53, -16.46, 12.69) | |
| 17:58235064 | H>P | B:122 | (10.13, -13.30, 8.42) | |
| 17:58235111 | P>S | B:123 | (15.21, -11.13, 5.36) | |
| 17:58235116 | E>D | B:138 | (16.39, 0.33, 10.01) | |
| 17:58235118 | D>A | B:139 | (13.10, -2.02, 8.62) | |
| 17:58235120 | rs573405938 | E>K | B:140 | (16.50, -5.63, 7.55) |
| 17:58235439 | rs185942554 | N>K | B:154 | (-1.97, -28.40, 19.17) |
| 17:58235442 | rs149925430 | E>D | B:155 | (-2.93, -32.63, 16.41) |
| 17:58235461 | E>Q | B:162 | (7.05, -36.49, 17.27) | |
| 17:58235463 | E>D | B:162 | (7.05, -36.49, 17.27) | |
| 17:58235478 | rs372013244 | I>M | B:167 | (17.32, -33.38, 18.02) |
| 17:58235483 | rs147624521 | K>R | B:169 | (22.81, -35.52, 21.83) |
| 17:58235647 | M>T | B:172 | (21.81, -33.23, 16.49) | |
| 17:58235649 | S>R | B:173 | (20.02, -32.51, 12.67) | |
| 17:58235656 | T>M | B:175 | (13.69, -34.53, 8.53) | |
| 17:58235658 | M>V | B:176 | (9.75, -32.25, 10.36) | |
| 17:58235659 | rs375031809 | M>T | B:176 | (9.75, -32.25, 10.36) |
| 17:58235662 | A>V | B:177 | (7.04, -34.47, 9.44) | |
| 17:58235674 | L>P | B:181 | (4.21, -22.91, 8.37) | |
| 17:58235678 | rs142186287 | L>F | B:182 | (-0.86, -22.38, 8.41) |
| 17:58235715 | F>L | B:192 | (0.72, -5.53, 20.31) | |
| 17:58235718 | rs121434551 CM057973 |
R>C | B:193 | (4.15, -3.47, 14.20) |
| 17:58235719 | R>H | B:193 | (4.15, -3.47, 14.20) | |
| 17:58235725 | L>R | B:195 | (11.17, -0.58, 16.13) | |
| 17:58235736 | T>A | B:199 | (16.72, -12.15, 21.35) | |
| 17:58235743 | P>L | B:201 | (24.16, -12.54, 20.35) | |
| 17:58235749 | C>Y | B:203 | (21.90, -8.17, 19.49) | |
| 17:58235750 | C>W | B:203 | (21.90, -8.17, 19.49) | |
| 17:58235751 | D>N | B:204 | (21.89, -6.82, 15.58) | |
| 17:58235759 | K>N | B:206 | (19.29, -5.92, 11.60) | |
| 17:58235763 | rs117704637 | V>I | B:208 | (10.26, -5.23, 12.63) |
| 17:58235768 | W>C | B:209 | (10.45, -7.68, 17.40) | |
| 17:58235772 | rs2229178 | V>L | B:211 | (3.43, -9.13, 19.29) |
| 17:58235776 | F>Y | B:212 | (0.52, -11.68, 16.78) | |
| 17:58235779 | rs76995634 | R>Q | B:213 | (-5.19, -9.61, 21.59) |
| 17:58235787 | I>V | B:216 | (-0.38, -20.38, 20.52) | |
| 17:58235788 | I>T | B:216 | (-0.38, -20.38, 20.52) | |
| 17:58236607 | rs150432787 | Q>P | B:227 | (10.94, -33.68, 28.99) |
| 17:58236607 | rs150432787 | Q>P | B:227 | (11.74, -29.29, 28.69) |
| 17:58236616 | Y>C | B:230 | (19.15, -33.05, 26.87) | |
| 17:58236621 | D>N | B:232 | (24.75, -30.93, 27.51) | |
| 17:58236627 | E>K | B:236 | (27.69, -34.14, 28.16) | |
| 17:58236630 | Q>E | B:237 | (22.47, -35.95, 27.38) | |
| 17:58236634 | T>I | B:238 | (23.90, -33.19, 31.84) | |
| 17:58236636 | V>M | B:239 | (21.94, -29.87, 31.02) | |
| 17:58236639 | COSM116283 | S>C | B:240 | (17.76, -29.93, 30.66) |
| 17:58236646 | rs187221698 | K>R | B:242 | (15.22, -25.38, 31.86) |
| 17:58236660 | P>S | B:247 | (16.68, -10.53, 30.15) | |
| 17:58236673 | L>P | B:251 | (10.74, 1.06, 26.16) | |
| 17:58236681 | R>C | B:254 | (12.10, 1.26, 22.41) | |
| 17:58236685 | rs377145857 | T>M | B:255 | (6.50, 4.30, 20.96) |