Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28519 | 85780;85781;85782 | chr2:178560577;178560576;178560575 | chr2:179425304;179425303;179425302 |
| N2AB | 26878 | 80857;80858;80859 | chr2:178560577;178560576;178560575 | chr2:179425304;179425303;179425302 |
| N2A | 25951 | 78076;78077;78078 | chr2:178560577;178560576;178560575 | chr2:179425304;179425303;179425302 |
| N2B | 19454 | 58585;58586;58587 | chr2:178560577;178560576;178560575 | chr2:179425304;179425303;179425302 |
| Novex-1 | 19579 | 58960;58961;58962 | chr2:178560577;178560576;178560575 | chr2:179425304;179425303;179425302 |
| Novex-2 | 19646 | 59161;59162;59163 | chr2:178560577;178560576;178560575 | chr2:179425304;179425303;179425302 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs1379450228  |
-0.26 | 0.983 | N | 0.621 | 0.29 | 0.126345400529 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs1379450228 |
-0.26 | 0.983 | N | 0.621 | 0.29 | 0.126345400529 | gnomAD-4.0.0 | 1.59255E-06 | None | None | None | None | N | None | 0 | 2.28854E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.5088 | ambiguous | 0.5462 | ambiguous | -0.932 | Destabilizing | 0.845 | D | 0.539 | neutral | None | None | None | None | N |
| N/C | 0.3297 | likely_benign | 0.3922 | ambiguous | 0.002 | Stabilizing | 0.073 | N | 0.388 | neutral | None | None | None | None | N |
| N/D | 0.3892 | ambiguous | 0.4207 | ambiguous | -0.508 | Destabilizing | 0.981 | D | 0.523 | neutral | N | 0.500980702 | None | None | N |
| N/E | 0.6608 | likely_pathogenic | 0.6901 | pathogenic | -0.408 | Destabilizing | 0.996 | D | 0.62 | neutral | None | None | None | None | N |
| N/F | 0.8276 | likely_pathogenic | 0.8316 | pathogenic | -0.63 | Destabilizing | 0.987 | D | 0.746 | deleterious | None | None | None | None | N |
| N/G | 0.524 | ambiguous | 0.5584 | ambiguous | -1.28 | Destabilizing | 0.957 | D | 0.426 | neutral | None | None | None | None | N |
| N/H | 0.1578 | likely_benign | 0.1567 | benign | -0.949 | Destabilizing | 0.994 | D | 0.647 | neutral | N | 0.510534109 | None | None | N |
| N/I | 0.5485 | ambiguous | 0.5514 | ambiguous | -0.042 | Destabilizing | 0.967 | D | 0.723 | prob.delet. | N | 0.484851457 | None | None | N |
| N/K | 0.4354 | ambiguous | 0.4416 | ambiguous | -0.355 | Destabilizing | 0.983 | D | 0.621 | neutral | N | 0.48615574 | None | None | N |
| N/L | 0.5858 | likely_pathogenic | 0.582 | pathogenic | -0.042 | Destabilizing | 0.95 | D | 0.681 | prob.neutral | None | None | None | None | N |
| N/M | 0.623 | likely_pathogenic | 0.6254 | pathogenic | 0.398 | Stabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| N/P | 0.9621 | likely_pathogenic | 0.9658 | pathogenic | -0.309 | Destabilizing | 0.996 | D | 0.71 | prob.delet. | None | None | None | None | N |
| N/Q | 0.4887 | ambiguous | 0.4913 | ambiguous | -0.899 | Destabilizing | 0.996 | D | 0.645 | neutral | None | None | None | None | N |
| N/R | 0.3836 | ambiguous | 0.4165 | ambiguous | -0.371 | Destabilizing | 0.996 | D | 0.653 | neutral | None | None | None | None | N |
| N/S | 0.137 | likely_benign | 0.1469 | benign | -0.974 | Destabilizing | 0.892 | D | 0.422 | neutral | N | 0.51751601 | None | None | N |
| N/T | 0.3548 | ambiguous | 0.3827 | ambiguous | -0.68 | Destabilizing | 0.892 | D | 0.559 | neutral | N | 0.468159051 | None | None | N |
| N/V | 0.5026 | ambiguous | 0.5161 | ambiguous | -0.309 | Destabilizing | 0.975 | D | 0.731 | prob.delet. | None | None | None | None | N |
| N/W | 0.8867 | likely_pathogenic | 0.8982 | pathogenic | -0.388 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | None | None | None | None | N |
| N/Y | 0.3401 | ambiguous | 0.3482 | ambiguous | -0.202 | Destabilizing | 0.994 | D | 0.723 | prob.delet. | N | 0.508235631 | 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.