Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23882 | 71869;71870;71871 | chr2:178574488;178574487;178574486 | chr2:179439215;179439214;179439213 |
| N2AB | 22241 | 66946;66947;66948 | chr2:178574488;178574487;178574486 | chr2:179439215;179439214;179439213 |
| N2A | 21314 | 64165;64166;64167 | chr2:178574488;178574487;178574486 | chr2:179439215;179439214;179439213 |
| N2B | 14817 | 44674;44675;44676 | chr2:178574488;178574487;178574486 | chr2:179439215;179439214;179439213 |
| Novex-1 | 14942 | 45049;45050;45051 | chr2:178574488;178574487;178574486 | chr2:179439215;179439214;179439213 |
| Novex-2 | 15009 | 45250;45251;45252 | chr2:178574488;178574487;178574486 | chr2:179439215;179439214;179439213 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 0.001 | N | 0.143 | 0.13 | 0.152612264143 | gnomAD-4.0.0 | 1.36852E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79913E-06 | 0 | 0 |
| P/R | rs1709373981  |
None | 0.491 | N | 0.441 | 0.208 | 0.282179105231 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/R | rs1709373981 |
None | 0.491 | N | 0.441 | 0.208 | 0.282179105231 | gnomAD-4.0.0 | 6.5754E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47072E-05 | 0 | 0 |
| P/S | None | None | 0.005 | N | 0.161 | 0.125 | 0.141422826196 | gnomAD-4.0.0 | 2.05279E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6987E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0595 | likely_benign | 0.0568 | benign | -0.478 | Destabilizing | 0.001 | N | 0.143 | neutral | N | 0.444178618 | None | None | I |
| P/C | 0.2913 | likely_benign | 0.2819 | benign | -0.873 | Destabilizing | 0.901 | D | 0.339 | neutral | None | None | None | None | I |
| P/D | 0.3472 | ambiguous | 0.3509 | ambiguous | -0.088 | Destabilizing | 0.209 | N | 0.283 | neutral | None | None | None | None | I |
| P/E | 0.2161 | likely_benign | 0.2224 | benign | -0.179 | Destabilizing | 0.002 | N | 0.159 | neutral | None | None | None | None | I |
| P/F | 0.2637 | likely_benign | 0.2708 | benign | -0.572 | Destabilizing | 0.901 | D | 0.454 | neutral | None | None | None | None | I |
| P/G | 0.1868 | likely_benign | 0.1829 | benign | -0.6 | Destabilizing | 0.209 | N | 0.219 | neutral | None | None | None | None | I |
| P/H | 0.121 | likely_benign | 0.1258 | benign | 0.011 | Stabilizing | 0.901 | D | 0.328 | neutral | None | None | None | None | I |
| P/I | 0.1575 | likely_benign | 0.1527 | benign | -0.296 | Destabilizing | 0.007 | N | 0.282 | neutral | None | None | None | None | I |
| P/K | 0.1792 | likely_benign | 0.1822 | benign | -0.465 | Destabilizing | 0.209 | N | 0.273 | neutral | None | None | None | None | I |
| P/L | 0.082 | likely_benign | 0.0803 | benign | -0.296 | Destabilizing | 0.08 | N | 0.241 | neutral | N | 0.481139496 | None | None | I |
| P/M | 0.1637 | likely_benign | 0.1644 | benign | -0.549 | Destabilizing | 0.901 | D | 0.355 | neutral | None | None | None | None | I |
| P/N | 0.189 | likely_benign | 0.1899 | benign | -0.373 | Destabilizing | 0.561 | D | 0.391 | neutral | None | None | None | None | I |
| P/Q | 0.1002 | likely_benign | 0.1047 | benign | -0.545 | Destabilizing | 0.326 | N | 0.42 | neutral | N | 0.443698615 | None | None | I |
| P/R | 0.1288 | likely_benign | 0.1306 | benign | 0.018 | Stabilizing | 0.491 | N | 0.441 | neutral | N | 0.444063975 | None | None | I |
| P/S | 0.0799 | likely_benign | 0.082 | benign | -0.772 | Destabilizing | 0.005 | N | 0.161 | neutral | N | 0.430150528 | None | None | I |
| P/T | 0.0657 | likely_benign | 0.0649 | benign | -0.757 | Destabilizing | 0.166 | N | 0.249 | neutral | N | 0.445082695 | None | None | I |
| P/V | 0.1083 | likely_benign | 0.1063 | benign | -0.324 | Destabilizing | 0.001 | N | 0.155 | neutral | None | None | None | None | I |
| P/W | 0.4393 | ambiguous | 0.4258 | ambiguous | -0.634 | Destabilizing | 0.991 | D | 0.34 | neutral | None | None | None | None | I |
| P/Y | 0.2663 | likely_benign | 0.255 | benign | -0.366 | Destabilizing | 0.965 | D | 0.438 | neutral | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.