Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17420 | 52483;52484;52485 | chr2:178608753;178608752;178608751 | chr2:179473480;179473479;179473478 |
| N2AB | 15779 | 47560;47561;47562 | chr2:178608753;178608752;178608751 | chr2:179473480;179473479;179473478 |
| N2A | 14852 | 44779;44780;44781 | chr2:178608753;178608752;178608751 | chr2:179473480;179473479;179473478 |
| N2B | 8355 | 25288;25289;25290 | chr2:178608753;178608752;178608751 | chr2:179473480;179473479;179473478 |
| Novex-1 | 8480 | 25663;25664;25665 | chr2:178608753;178608752;178608751 | chr2:179473480;179473479;179473478 |
| Novex-2 | 8547 | 25864;25865;25866 | chr2:178608753;178608752;178608751 | chr2:179473480;179473479;179473478 |
| 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 | rs1295267229  |
None | None | N | 0.143 | 0.188 | 0.326881540566 | gnomAD-4.0.0 | 2.054E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69952E-06 | 0 | 0 |
| V/F | rs1215579052 |
None | 0.171 | N | 0.569 | 0.104 | 0.395595088485 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/F | rs1215579052 |
None | 0.171 | N | 0.569 | 0.104 | 0.395595088485 | gnomAD-4.0.0 | 6.58077E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47197E-05 | 0 | 0 |
| V/G | None | None | 0.012 | N | 0.455 | 0.174 | 0.383760037723 | gnomAD-4.0.0 | 1.36934E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79968E-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 | 0.1832 | likely_benign | 0.1342 | benign | -1.098 | Destabilizing | None | N | 0.143 | neutral | N | 0.431169248 | None | None | N |
| V/C | 0.6538 | likely_pathogenic | 0.5235 | ambiguous | -0.841 | Destabilizing | None | N | 0.333 | neutral | None | None | None | None | N |
| V/D | 0.5634 | ambiguous | 0.4551 | ambiguous | -0.772 | Destabilizing | 0.055 | N | 0.526 | neutral | N | 0.448485573 | None | None | N |
| V/E | 0.4153 | ambiguous | 0.3476 | ambiguous | -0.842 | Destabilizing | 0.072 | N | 0.499 | neutral | None | None | None | None | N |
| V/F | 0.2984 | likely_benign | 0.2251 | benign | -1.003 | Destabilizing | 0.171 | N | 0.569 | neutral | N | 0.477365685 | None | None | N |
| V/G | 0.3012 | likely_benign | 0.2206 | benign | -1.323 | Destabilizing | 0.012 | N | 0.455 | neutral | N | 0.472978586 | None | None | N |
| V/H | 0.6582 | likely_pathogenic | 0.5316 | ambiguous | -0.754 | Destabilizing | 0.628 | D | 0.518 | neutral | None | None | None | None | N |
| V/I | 0.0795 | likely_benign | 0.0711 | benign | -0.622 | Destabilizing | None | N | 0.154 | neutral | N | 0.452411312 | None | None | N |
| V/K | 0.506 | ambiguous | 0.4076 | ambiguous | -0.913 | Destabilizing | 0.072 | N | 0.498 | neutral | None | None | None | None | N |
| V/L | 0.199 | likely_benign | 0.14 | benign | -0.622 | Destabilizing | 0.002 | N | 0.264 | neutral | N | 0.435711063 | None | None | N |
| V/M | 0.1552 | likely_benign | 0.114 | benign | -0.5 | Destabilizing | 0.214 | N | 0.43 | neutral | None | None | None | None | N |
| V/N | 0.3224 | likely_benign | 0.2146 | benign | -0.652 | Destabilizing | 0.072 | N | 0.519 | neutral | None | None | None | None | N |
| V/P | 0.3702 | ambiguous | 0.2734 | benign | -0.745 | Destabilizing | 0.136 | N | 0.563 | neutral | None | None | None | None | N |
| V/Q | 0.4 | ambiguous | 0.3164 | benign | -0.905 | Destabilizing | 0.356 | N | 0.607 | neutral | None | None | None | None | N |
| V/R | 0.4579 | ambiguous | 0.3617 | ambiguous | -0.305 | Destabilizing | 0.072 | N | 0.589 | neutral | None | None | None | None | N |
| V/S | 0.2266 | likely_benign | 0.1557 | benign | -1.115 | Destabilizing | 0.001 | N | 0.301 | neutral | None | None | None | None | N |
| V/T | 0.13 | likely_benign | 0.0945 | benign | -1.083 | Destabilizing | None | N | 0.151 | neutral | None | None | None | None | N |
| V/W | 0.8772 | likely_pathogenic | 0.8037 | pathogenic | -1.076 | Destabilizing | 0.864 | D | 0.535 | neutral | None | None | None | None | N |
| V/Y | 0.6782 | likely_pathogenic | 0.5694 | pathogenic | -0.811 | Destabilizing | 0.356 | N | 0.561 | neutral | None | None | None | None | N |
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.