Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26869 | 80830;80831;80832 | chr2:178565527;178565526;178565525 | chr2:179430254;179430253;179430252 |
| N2AB | 25228 | 75907;75908;75909 | chr2:178565527;178565526;178565525 | chr2:179430254;179430253;179430252 |
| N2A | 24301 | 73126;73127;73128 | chr2:178565527;178565526;178565525 | chr2:179430254;179430253;179430252 |
| N2B | 17804 | 53635;53636;53637 | chr2:178565527;178565526;178565525 | chr2:179430254;179430253;179430252 |
| Novex-1 | 17929 | 54010;54011;54012 | chr2:178565527;178565526;178565525 | chr2:179430254;179430253;179430252 |
| Novex-2 | 17996 | 54211;54212;54213 | chr2:178565527;178565526;178565525 | chr2:179430254;179430253;179430252 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | None | N | 0.053 | 0.201 | 0.464183351471 | gnomAD-4.0.0 | 6.00162E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56252E-06 | 0 | 0 |
| V/I | None | None | None | N | 0.067 | 0.136 | 0.517709844387 | gnomAD-4.0.0 | 1.59183E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85941E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3579 | ambiguous | 0.2532 | benign | -0.566 | Destabilizing | None | N | 0.053 | neutral | N | 0.425115642 | None | None | I |
| V/C | 0.8072 | likely_pathogenic | 0.7778 | pathogenic | -0.912 | Destabilizing | 0.832 | D | 0.387 | neutral | None | None | None | None | I |
| V/D | 0.616 | likely_pathogenic | 0.4853 | ambiguous | -0.512 | Destabilizing | 0.282 | N | 0.531 | neutral | N | 0.441394603 | None | None | I |
| V/E | 0.5534 | ambiguous | 0.4399 | ambiguous | -0.584 | Destabilizing | 0.023 | N | 0.471 | neutral | None | None | None | None | I |
| V/F | 0.2126 | likely_benign | 0.1715 | benign | -0.661 | Destabilizing | 0.229 | N | 0.465 | neutral | N | 0.479635488 | None | None | I |
| V/G | 0.3541 | ambiguous | 0.2962 | benign | -0.7 | Destabilizing | 0.132 | N | 0.492 | neutral | N | 0.453958468 | None | None | I |
| V/H | 0.7384 | likely_pathogenic | 0.6975 | pathogenic | -0.068 | Destabilizing | 0.867 | D | 0.509 | neutral | None | None | None | None | I |
| V/I | 0.0823 | likely_benign | 0.0713 | benign | -0.337 | Destabilizing | None | N | 0.067 | neutral | N | 0.517737801 | None | None | I |
| V/K | 0.5868 | likely_pathogenic | 0.542 | ambiguous | -0.606 | Destabilizing | 0.05 | N | 0.495 | neutral | None | None | None | None | I |
| V/L | 0.259 | likely_benign | 0.2017 | benign | -0.337 | Destabilizing | 0.001 | N | 0.345 | neutral | N | 0.517911159 | None | None | I |
| V/M | 0.2089 | likely_benign | 0.1578 | benign | -0.687 | Destabilizing | 0.219 | N | 0.419 | neutral | None | None | None | None | I |
| V/N | 0.4403 | ambiguous | 0.3198 | benign | -0.526 | Destabilizing | 0.027 | N | 0.581 | neutral | None | None | None | None | I |
| V/P | 0.7247 | likely_pathogenic | 0.6403 | pathogenic | -0.382 | Destabilizing | 0.053 | N | 0.503 | neutral | None | None | None | None | I |
| V/Q | 0.5148 | ambiguous | 0.4508 | ambiguous | -0.691 | Destabilizing | 0.209 | N | 0.57 | neutral | None | None | None | None | I |
| V/R | 0.5496 | ambiguous | 0.5272 | ambiguous | -0.112 | Destabilizing | 0.443 | N | 0.604 | neutral | None | None | None | None | I |
| V/S | 0.3447 | ambiguous | 0.2589 | benign | -0.864 | Destabilizing | 0.002 | N | 0.311 | neutral | None | None | None | None | I |
| V/T | 0.3376 | likely_benign | 0.262 | benign | -0.832 | Destabilizing | 0.012 | N | 0.275 | neutral | None | None | None | None | I |
| V/W | 0.8808 | likely_pathogenic | 0.8618 | pathogenic | -0.734 | Destabilizing | 0.961 | D | 0.603 | neutral | None | None | None | None | I |
| V/Y | 0.6189 | likely_pathogenic | 0.5681 | pathogenic | -0.467 | Destabilizing | 0.443 | N | 0.467 | 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.