Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5046 | 15361;15362;15363 | chr2:178734788;178734787;178734786 | chr2:179599515;179599514;179599513 |
| N2AB | 4729 | 14410;14411;14412 | chr2:178734788;178734787;178734786 | chr2:179599515;179599514;179599513 |
| N2A | 3802 | 11629;11630;11631 | chr2:178734788;178734787;178734786 | chr2:179599515;179599514;179599513 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/F | rs1395287554  |
None | 0.994 | N | 0.353 | 0.322 | 0.469248961376 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs1395287554 |
None | 0.994 | N | 0.353 | 0.322 | 0.469248961376 | gnomAD-4.0.0 | 1.23941E-06 | None | None | None | None | I | None | 1.33479E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09818E-05 | 0 |
| V/I | rs1395287554 |
-0.13 | 0.248 | N | 0.279 | 0.113 | 0.244539031024 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs1395287554 |
-0.13 | 0.248 | N | 0.279 | 0.113 | 0.244539031024 | gnomAD-4.0.0 | 1.36848E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99504E-07 | 1.15977E-05 | 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 | 0.1165 | likely_benign | 0.1087 | benign | -0.97 | Destabilizing | 0.91 | D | 0.364 | neutral | N | 0.44698706 | None | None | I |
| V/C | 0.8185 | likely_pathogenic | 0.7987 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.427 | neutral | None | None | None | None | I |
| V/D | 0.3439 | ambiguous | 0.2607 | benign | -0.691 | Destabilizing | 0.977 | D | 0.492 | neutral | N | 0.448006502 | None | None | I |
| V/E | 0.2272 | likely_benign | 0.1975 | benign | -0.771 | Destabilizing | 0.503 | D | 0.318 | neutral | None | None | None | None | I |
| V/F | 0.2484 | likely_benign | 0.1989 | benign | -0.936 | Destabilizing | 0.994 | D | 0.353 | neutral | N | 0.45104668 | None | None | I |
| V/G | 0.2096 | likely_benign | 0.1741 | benign | -1.178 | Destabilizing | 0.994 | D | 0.494 | neutral | N | 0.445932954 | None | None | I |
| V/H | 0.6308 | likely_pathogenic | 0.5566 | ambiguous | -0.642 | Destabilizing | 1.0 | D | 0.573 | neutral | None | None | None | None | I |
| V/I | 0.0872 | likely_benign | 0.0839 | benign | -0.546 | Destabilizing | 0.248 | N | 0.279 | neutral | N | 0.4478245 | None | None | I |
| V/K | 0.3265 | likely_benign | 0.2651 | benign | -0.847 | Destabilizing | 0.991 | D | 0.409 | neutral | None | None | None | None | I |
| V/L | 0.2114 | likely_benign | 0.1776 | benign | -0.546 | Destabilizing | 0.835 | D | 0.411 | neutral | N | 0.429943249 | None | None | I |
| V/M | 0.1393 | likely_benign | 0.1222 | benign | -0.459 | Destabilizing | 0.996 | D | 0.338 | neutral | None | None | None | None | I |
| V/N | 0.3151 | likely_benign | 0.2521 | benign | -0.573 | Destabilizing | 0.996 | D | 0.555 | neutral | None | None | None | None | I |
| V/P | 0.2821 | likely_benign | 0.2685 | benign | -0.651 | Destabilizing | 0.999 | D | 0.484 | neutral | None | None | None | None | I |
| V/Q | 0.3225 | likely_benign | 0.2862 | benign | -0.823 | Destabilizing | 0.991 | D | 0.481 | neutral | None | None | None | None | I |
| V/R | 0.3174 | likely_benign | 0.2615 | benign | -0.244 | Destabilizing | 0.991 | D | 0.551 | neutral | None | None | None | None | I |
| V/S | 0.2122 | likely_benign | 0.1723 | benign | -1.003 | Destabilizing | 0.942 | D | 0.411 | neutral | None | None | None | None | I |
| V/T | 0.1326 | likely_benign | 0.1242 | benign | -0.981 | Destabilizing | 0.304 | N | 0.285 | neutral | None | None | None | None | I |
| V/W | 0.7876 | likely_pathogenic | 0.7247 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | I |
| V/Y | 0.6226 | likely_pathogenic | 0.5414 | ambiguous | -0.746 | Destabilizing | 0.999 | D | 0.352 | 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.