General Structure Information
| PDB ID | 4hbd |
| HGNC Gene Label(s) | KANK2 |
| Structure Name | crystal structure of kank2 ankyrin repeats |
| Resolution | 1.72Å |
| Reference | AUTH C.XU,W.TEMPEL,T.CEROVINA,M.EL BAKKOURI,C.BOUNTRA,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,J.MINTITL CRYSTAL STRUCTURE OF KANK2 ANKYRIN REPEATSREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 245 |
| Number Of SNVs | 83 |
| Number Of Permutations | 21777 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.037 |
| p-value | 0.939 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:11286654 | S>N | A:591 | (-3.59, 6.89, 12.22) | |
| 19:11286636 | A>V | A:597 | (-7.81, -1.48, 13.82) | |
| 19:11286631 | L>V | A:599 | (-4.06, -4.76, 11.17) | |
| 19:11286622 | E>K | A:602 | (-7.55, -8.03, 7.27) | |
| 19:11286606 | N>S | A:607 | (-11.44, -16.17, 9.65) | |
| 19:11286600 | rs367879167 | N>S | A:609 | (-13.11, -17.83, 13.47) |
| 19:11286585 | rs539210826 | R>Q | A:614 | (-14.55, -7.91, 24.46) |
| 19:11286586 | rs201580556 COSM990793 |
R>W | A:614 | (-14.55, -7.91, 24.46) |
| 19:11285362 | A>S | A:619 | (-12.36, -2.99, 15.79) | |
| 19:11285359 | rs578192834 | Y>H | A:620 | (-17.28, -1.58, 13.08) |
| 19:11285352 | T>I | A:622 | (-11.62, 1.89, 16.55) | |
| 19:11285341 | E>K | A:626 | (-9.84, 7.06, 14.31) | |
| 19:11285331 | R>H | A:629 | (-11.00, 11.50, 14.30) | |
| 19:11285319 | rs140410551 | R>H | A:633 | (-13.03, 16.79, 12.29) |
| 19:11285320 | R>C | A:633 | (-13.03, 16.79, 12.29) | |
| 19:11285317 | rs538438742 | S>G | A:634 | (-14.36, 20.67, 9.16) |
| 19:11285314 | D>N | A:635 | (-10.36, 19.86, 9.43) | |
| 19:11285306 | H>Q | A:637 | (-6.31, 17.53, 3.64) | |
| 19:11285302 | E>K | A:639 | (-3.24, 13.81, 0.17) | |
| 19:11285293 | rs141923748 | R>W | A:642 | (-4.05, 9.68, -1.69) |
| 19:11285289 | rs373772224 | R>Q | A:643 | (-1.09, 9.63, 2.82) |
| 19:11285290 | rs147591119 | R>W | A:643 | (-1.09, 9.63, 2.82) |
| 19:11285277 | COSM1390302 | T>M | A:647 | (-2.36, 2.03, 2.99) |
| 19:11285273 | F>L | A:648 | (-6.76, 1.40, 4.06) | |
| 19:11285271 | R>Q | A:649 | (-5.92, 0.14, -2.63) | |
| 19:11285272 | R>W | A:649 | (-5.92, 0.14, -2.63) | |
| 19:11285269 | A>T | A:650 | (-2.06, -2.69, 0.19) | |
| 19:11285259 | rs145082533 | A>V | A:653 | (-9.28, -5.14, -1.13) |
| 19:11285260 | A>T | A:653 | (-9.28, -5.14, -1.13) | |
| 19:11285256 | rs199981469 COSM3528490 COSM3528489 |
R>Q | A:654 | (-11.70, -8.90, 1.17) |
| 19:11285248 | D>N | A:657 | (-14.99, -2.37, 0.63) | |
| 19:11285242 | rs566437001 | V>M | A:659 | (-12.97, 1.32, 5.69) |
| 19:11285236 | N>D | A:661 | (-18.37, 1.47, 2.55) | |
| 19:11285233 | I>L | A:662 | (-17.65, 1.95, 7.92) | |
| 19:11285230 | rs202053134 | A>T | A:663 | (-21.41, 2.74, 9.17) |
| 19:11285227 | D>N | A:664 | (-22.91, 5.85, 11.53) | |
| 19:11285218 | G>S | A:667 | (-25.97, 5.00, 8.26) | |
| 19:11285214 | N>S | A:668 | (-24.35, 8.06, 7.80) | |
| 19:11285203 | H>Y | A:672 | (-23.82, 9.57, 3.42) | |
| 19:11285196 | S>Y | A:674 | (-18.58, 14.55, 2.61) | |
| 19:11285194 | rs149821111 | V>M | A:675 | (-22.10, 15.18, 0.24) |
| 19:11285187 | H>R | A:677 | (-20.32, 18.39, 5.64) | |
| 19:11285181 | rs529036135 | N>S | A:679 | (-15.51, 18.28, 1.44) |
| 19:11285166 | Q>R | A:684 | (-13.04, 13.12, -6.12) | |
| 19:11285158 | rs144212403 | L>V | A:687 | (-15.69, 8.74, -5.68) |
| 19:11283796 | V>A | A:691 | (-14.91, 0.75, -3.38) | |
| 19:11283787 | V>A | A:694 | (-22.99, 5.51, -4.23) | |
| 19:11283772 | rs376926134 | R>H | A:699 | (-32.93, 6.49, 10.07) |
| 19:11283773 | rs143339573 | R>C | A:699 | (-32.93, 6.49, 10.07) |
| 19:11283769 | rs146334556 | A>V | A:700 | (-33.78, 8.25, 6.37) |
| 19:11283763 | Y>C | A:702 | (-32.31, 10.50, 2.79) | |
| 19:11283764 | Y>H | A:702 | (-32.31, 10.50, 2.79) | |
| 19:11283758 | P>S | A:704 | (-24.97, 9.89, -1.04) | |
| 19:11283743 | A>T | A:709 | (-29.62, 18.74, -2.12) | |
| 19:11283736 | rs141494405 | A>V | A:711 | (-25.16, 21.14, -1.91) |
| 19:11283737 | A>T | A:711 | (-25.16, 21.14, -1.91) | |
| 19:11283731 | L>M | A:713 | (-22.47, 23.21, -6.67) | |
| 19:11283719 | D>H | A:717 | (-13.53, 21.24, -9.47) | |
| 19:11283710 | COSM1390301 | E>K | A:720 | (-16.75, 17.87, -13.05) |
| 19:11283688 | rs138941748 | R>Q | A:727 | (-20.48, 9.98, -14.24) |
| 19:11283689 | rs149289588 | R>W | A:727 | (-20.48, 9.98, -14.24) |
| 19:11283674 | N>H | A:732 | (-33.42, 7.56, -10.82) | |
| 19:11283671 | rs373009999 | A>T | A:733 | (-33.54, 6.42, -6.35) |
| 19:11280916 | Q>H | A:740 | (-38.58, 12.24, -2.09) | |
| 19:11280914 | T>M | A:741 | (-36.03, 11.64, -6.10) | |
| 19:11280905 | M>T | A:744 | (-38.18, 15.10, -5.96) | |
| 19:11280897 | V>I | A:747 | (-36.75, 21.05, -6.58) | |
| 19:11280888 | G>R | A:750 | (-33.44, 25.31, -4.91) | |
| 19:11280884 | rs182645582 | R>Q | A:751 | (-29.59, 24.09, -4.90) |
| 19:11280875 | V>A | A:754 | (-28.05, 19.86, -8.21) | |
| 19:11280876 | V>L | A:754 | (-28.05, 19.86, -8.21) | |
| 19:11280872 | rs143420181 | V>G | A:755 | (-31.39, 20.41, -11.10) |
| 19:11280830 | D>G | A:769 | (-44.05, 10.77, -4.44) | |
| 19:11280831 | D>N | A:769 | (-44.05, 10.77, -4.44) | |
| 19:11280825 | D>N | A:771 | (-48.23, 11.35, -2.20) | |
| 19:11280822 | rs368403186 | G>S | A:772 | (-47.71, 11.43, -6.95) |
| 19:11280810 | L>F | A:776 | (-43.05, 19.99, -12.37) | |
| 19:11280801 | A>T | A:779 | (-41.83, 23.66, -8.66) | |
| 19:11280795 | E>K | A:781 | (-46.82, 24.29, -4.38) | |
| 19:11280791 | H>R | A:782 | (-42.97, 25.16, -3.12) | |
| 19:11280789 | G>S | A:783 | (-41.81, 28.75, -7.10) | |
| 19:11280782 | K>R | A:785 | (-39.66, 29.96, -12.08) | |
| 19:11280773 | rs539531548 | A>V | A:788 | (-39.61, 24.73, -14.11) |
| 19:11280756 | V>M | A:794 | (-36.94, 17.64, -20.38) | |
| 19:11280728 | D>G | A:803 | (-51.60, 14.12, -7.40) | |
| 19:11280726 | R>C | A:804 | (-52.76, 11.60, -2.74) | |
| 19:11280632 | T>I | A:808 | (-51.92, 18.61, -12.86) | |
| 19:11280630 | COSM990792 | A>T | A:809 | (-48.74, 20.80, -12.38) |
| 19:11280627 | L>V | A:810 | (-51.54, 23.69, -14.45) | |
| 19:11280612 | rs377191659 | D>N | A:815 | (-54.39, 25.85, -6.88) |
| 19:11280609 | A>T | A:816 | (-50.48, 28.69, -5.74) | |
| 19:11280590 | COSM3692342 COSM3692341 |
A>V | A:822 | (-48.83, 28.53, -15.52) |
| 19:11280578 | Y>C | A:826 | (-51.70, 27.01, -19.94) | |
| 19:11280573 | R>C | A:828 | (-44.74, 20.96, -22.81) |