Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26505 | 79738;79739;79740 | chr2:178566619;178566618;178566617 | chr2:179431346;179431345;179431344 |
| N2AB | 24864 | 74815;74816;74817 | chr2:178566619;178566618;178566617 | chr2:179431346;179431345;179431344 |
| N2A | 23937 | 72034;72035;72036 | chr2:178566619;178566618;178566617 | chr2:179431346;179431345;179431344 |
| N2B | 17440 | 52543;52544;52545 | chr2:178566619;178566618;178566617 | chr2:179431346;179431345;179431344 |
| Novex-1 | 17565 | 52918;52919;52920 | chr2:178566619;178566618;178566617 | chr2:179431346;179431345;179431344 |
| Novex-2 | 17632 | 53119;53120;53121 | chr2:178566619;178566618;178566617 | chr2:179431346;179431345;179431344 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs886042786  |
0.04 | 0.059 | N | 0.418 | 0.25 | 0.353125101423 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| T/I | rs886042786 |
0.04 | 0.059 | N | 0.418 | 0.25 | 0.353125101423 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 4.38597E-03 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs886042786 |
0.04 | 0.059 | N | 0.418 | 0.25 | 0.353125101423 | gnomAD-4.0.0 | 8.98263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.7873E-06 | 0 | 2.84608E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0974 | likely_benign | 0.0933 | benign | -1.058 | Destabilizing | 0.64 | D | 0.527 | neutral | N | 0.487310674 | None | None | N |
| T/C | 0.3341 | likely_benign | 0.2821 | benign | -1.052 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | N |
| T/D | 0.5788 | likely_pathogenic | 0.5462 | ambiguous | -1.621 | Destabilizing | 0.976 | D | 0.652 | neutral | None | None | None | None | N |
| T/E | 0.5059 | ambiguous | 0.4597 | ambiguous | -1.478 | Destabilizing | 0.976 | D | 0.651 | neutral | None | None | None | None | N |
| T/F | 0.1825 | likely_benign | 0.1598 | benign | -0.787 | Destabilizing | 0.976 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/G | 0.3092 | likely_benign | 0.2764 | benign | -1.425 | Destabilizing | 0.034 | N | 0.475 | neutral | None | None | None | None | N |
| T/H | 0.2629 | likely_benign | 0.2307 | benign | -1.629 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/I | 0.1473 | likely_benign | 0.1281 | benign | -0.122 | Destabilizing | 0.059 | N | 0.418 | neutral | N | 0.482462055 | None | None | N |
| T/K | 0.3645 | ambiguous | 0.3013 | benign | -0.863 | Destabilizing | 0.968 | D | 0.642 | neutral | N | 0.478018283 | None | None | N |
| T/L | 0.1061 | likely_benign | 0.0961 | benign | -0.122 | Destabilizing | 0.851 | D | 0.573 | neutral | None | None | None | None | N |
| T/M | 0.095 | likely_benign | 0.0886 | benign | -0.128 | Destabilizing | 0.993 | D | 0.683 | prob.neutral | None | None | None | None | N |
| T/N | 0.1723 | likely_benign | 0.161 | benign | -1.383 | Destabilizing | 0.976 | D | 0.604 | neutral | None | None | None | None | N |
| T/P | 0.6829 | likely_pathogenic | 0.6762 | pathogenic | -0.402 | Destabilizing | 0.984 | D | 0.685 | prob.neutral | N | 0.520507444 | None | None | N |
| T/Q | 0.308 | likely_benign | 0.267 | benign | -1.311 | Destabilizing | 0.988 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/R | 0.3015 | likely_benign | 0.2474 | benign | -0.883 | Destabilizing | 0.984 | D | 0.687 | prob.neutral | N | 0.494045397 | None | None | N |
| T/S | 0.0969 | likely_benign | 0.0923 | benign | -1.541 | Destabilizing | 0.251 | N | 0.454 | neutral | N | 0.46041472 | None | None | N |
| T/V | 0.1291 | likely_benign | 0.114 | benign | -0.402 | Destabilizing | 0.851 | D | 0.563 | neutral | None | None | None | None | N |
| T/W | 0.5678 | likely_pathogenic | 0.5185 | ambiguous | -0.9 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| T/Y | 0.2435 | likely_benign | 0.2315 | benign | -0.551 | Destabilizing | 0.996 | D | 0.716 | prob.delet. | 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.