Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32552 | 97879;97880;97881 | chr2:178541423;178541422;178541421 | chr2:179406150;179406149;179406148 |
| N2AB | 30911 | 92956;92957;92958 | chr2:178541423;178541422;178541421 | chr2:179406150;179406149;179406148 |
| N2A | 29984 | 90175;90176;90177 | chr2:178541423;178541422;178541421 | chr2:179406150;179406149;179406148 |
| N2B | 23487 | 70684;70685;70686 | chr2:178541423;178541422;178541421 | chr2:179406150;179406149;179406148 |
| Novex-1 | 23612 | 71059;71060;71061 | chr2:178541423;178541422;178541421 | chr2:179406150;179406149;179406148 |
| Novex-2 | 23679 | 71260;71261;71262 | chr2:178541423;178541422;178541421 | chr2:179406150;179406149;179406148 |
| 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 | 0.625 | N | 0.229 | 0.221 | 0.513394077459 | gnomAD-4.0.0 | 1.59237E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86012E-06 | 0 | 0 |
| V/I | rs1694451017  |
None | 0.012 | N | 0.187 | 0.057 | 0.419713421852 | gnomAD-4.0.0 | 1.59232E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86004E-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 | 0.1781 | likely_benign | 0.1725 | benign | -0.378 | Destabilizing | 0.625 | D | 0.229 | neutral | N | 0.437017785 | None | None | I |
| V/C | 0.6752 | likely_pathogenic | 0.6533 | pathogenic | -0.691 | Destabilizing | 0.998 | D | 0.31 | neutral | None | None | None | None | I |
| V/D | 0.3263 | likely_benign | 0.314 | benign | -0.368 | Destabilizing | 0.728 | D | 0.415 | neutral | None | None | None | None | I |
| V/E | 0.3176 | likely_benign | 0.3048 | benign | -0.484 | Destabilizing | 0.801 | D | 0.351 | neutral | N | 0.418354667 | None | None | I |
| V/F | 0.161 | likely_benign | 0.1603 | benign | -0.662 | Destabilizing | 0.949 | D | 0.339 | neutral | None | None | None | None | I |
| V/G | 0.2057 | likely_benign | 0.2047 | benign | -0.475 | Destabilizing | 0.801 | D | 0.361 | neutral | N | 0.463588311 | None | None | I |
| V/H | 0.5125 | ambiguous | 0.4743 | ambiguous | -0.021 | Destabilizing | 0.993 | D | 0.381 | neutral | None | None | None | None | I |
| V/I | 0.0796 | likely_benign | 0.0763 | benign | -0.271 | Destabilizing | 0.012 | N | 0.187 | neutral | N | 0.472074508 | None | None | I |
| V/K | 0.4652 | ambiguous | 0.4296 | ambiguous | -0.429 | Destabilizing | 0.842 | D | 0.359 | neutral | None | None | None | None | I |
| V/L | 0.1856 | likely_benign | 0.1738 | benign | -0.271 | Destabilizing | 0.267 | N | 0.213 | neutral | N | 0.416335869 | None | None | I |
| V/M | 0.1427 | likely_benign | 0.1348 | benign | -0.451 | Destabilizing | 0.325 | N | 0.186 | neutral | None | None | None | None | I |
| V/N | 0.1579 | likely_benign | 0.1493 | benign | -0.22 | Destabilizing | 0.067 | N | 0.263 | neutral | None | None | None | None | I |
| V/P | 0.7669 | likely_pathogenic | 0.7627 | pathogenic | -0.275 | Destabilizing | 0.991 | D | 0.382 | neutral | None | None | None | None | I |
| V/Q | 0.3335 | likely_benign | 0.3081 | benign | -0.448 | Destabilizing | 0.974 | D | 0.383 | neutral | None | None | None | None | I |
| V/R | 0.4399 | ambiguous | 0.406 | ambiguous | 0.081 | Stabilizing | 0.974 | D | 0.429 | neutral | None | None | None | None | I |
| V/S | 0.1669 | likely_benign | 0.1583 | benign | -0.534 | Destabilizing | 0.842 | D | 0.325 | neutral | None | None | None | None | I |
| V/T | 0.1733 | likely_benign | 0.1643 | benign | -0.553 | Destabilizing | 0.842 | D | 0.231 | neutral | None | None | None | None | I |
| V/W | 0.7822 | likely_pathogenic | 0.7684 | pathogenic | -0.738 | Destabilizing | 0.998 | D | 0.467 | neutral | None | None | None | None | I |
| V/Y | 0.4145 | ambiguous | 0.3997 | ambiguous | -0.452 | Destabilizing | 0.991 | D | 0.32 | 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.