Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20205 | 60838;60839;60840 | chr2:178591112;178591111;178591110 | chr2:179455839;179455838;179455837 |
| N2AB | 18564 | 55915;55916;55917 | chr2:178591112;178591111;178591110 | chr2:179455839;179455838;179455837 |
| N2A | 17637 | 53134;53135;53136 | chr2:178591112;178591111;178591110 | chr2:179455839;179455838;179455837 |
| N2B | 11140 | 33643;33644;33645 | chr2:178591112;178591111;178591110 | chr2:179455839;179455838;179455837 |
| Novex-1 | 11265 | 34018;34019;34020 | chr2:178591112;178591111;178591110 | chr2:179455839;179455838;179455837 |
| Novex-2 | 11332 | 34219;34220;34221 | chr2:178591112;178591111;178591110 | chr2:179455839;179455838;179455837 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/V | rs1278691474  |
None | 0.267 | N | 0.212 | 0.11 | 0.421550847248 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 1.18203E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs1278691474 |
None | 0.267 | N | 0.212 | 0.11 | 0.421550847248 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs1278691474 |
None | 0.267 | N | 0.212 | 0.11 | 0.421550847248 | gnomAD-4.0.0 | 2.56394E-06 | None | None | None | None | I | None | 0 | 1.69607E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84527E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3813 | ambiguous | 0.4491 | ambiguous | -0.954 | Destabilizing | 0.688 | D | 0.429 | neutral | None | None | None | None | I |
| I/C | 0.6447 | likely_pathogenic | 0.689 | pathogenic | -0.637 | Destabilizing | 0.998 | D | 0.382 | neutral | None | None | None | None | I |
| I/D | 0.7599 | likely_pathogenic | 0.8391 | pathogenic | -0.552 | Destabilizing | 0.974 | D | 0.395 | neutral | None | None | None | None | I |
| I/E | 0.5825 | likely_pathogenic | 0.6672 | pathogenic | -0.65 | Destabilizing | 0.915 | D | 0.39 | neutral | None | None | None | None | I |
| I/F | 0.1993 | likely_benign | 0.246 | benign | -0.987 | Destabilizing | 0.949 | D | 0.387 | neutral | None | None | None | None | I |
| I/G | 0.6345 | likely_pathogenic | 0.7098 | pathogenic | -1.139 | Destabilizing | 0.915 | D | 0.397 | neutral | None | None | None | None | I |
| I/H | 0.5278 | ambiguous | 0.6006 | pathogenic | -0.444 | Destabilizing | 0.998 | D | 0.334 | neutral | None | None | None | None | I |
| I/K | 0.3879 | ambiguous | 0.4651 | ambiguous | -0.502 | Destabilizing | 0.891 | D | 0.395 | neutral | N | 0.442962323 | None | None | I |
| I/L | 0.0972 | likely_benign | 0.0956 | benign | -0.581 | Destabilizing | 0.111 | N | 0.197 | neutral | N | 0.409676468 | None | None | I |
| I/M | 0.0719 | likely_benign | 0.0783 | benign | -0.382 | Destabilizing | 0.136 | N | 0.125 | neutral | N | 0.433305477 | None | None | I |
| I/N | 0.247 | likely_benign | 0.2997 | benign | -0.245 | Destabilizing | 0.974 | D | 0.387 | neutral | None | None | None | None | I |
| I/P | 0.9243 | likely_pathogenic | 0.9518 | pathogenic | -0.672 | Destabilizing | 0.991 | D | 0.401 | neutral | None | None | None | None | I |
| I/Q | 0.4017 | ambiguous | 0.4656 | ambiguous | -0.544 | Destabilizing | 0.974 | D | 0.407 | neutral | None | None | None | None | I |
| I/R | 0.3358 | likely_benign | 0.4197 | ambiguous | 0.132 | Stabilizing | 0.966 | D | 0.392 | neutral | N | 0.443309039 | None | None | I |
| I/S | 0.2595 | likely_benign | 0.3199 | benign | -0.71 | Destabilizing | 0.728 | D | 0.371 | neutral | None | None | None | None | I |
| I/T | 0.1509 | likely_benign | 0.1771 | benign | -0.703 | Destabilizing | 0.022 | N | 0.131 | neutral | N | 0.319419824 | None | None | I |
| I/V | 0.0949 | likely_benign | 0.1035 | benign | -0.672 | Destabilizing | 0.267 | N | 0.212 | neutral | N | 0.435342917 | None | None | I |
| I/W | 0.7282 | likely_pathogenic | 0.8086 | pathogenic | -0.972 | Destabilizing | 0.998 | D | 0.357 | neutral | None | None | None | None | I |
| I/Y | 0.5254 | ambiguous | 0.5881 | pathogenic | -0.723 | Destabilizing | 0.974 | D | 0.414 | 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.