Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17484 | 52675;52676;52677 | chr2:178608433;178608432;178608431 | chr2:179473160;179473159;179473158 |
| N2AB | 15843 | 47752;47753;47754 | chr2:178608433;178608432;178608431 | chr2:179473160;179473159;179473158 |
| N2A | 14916 | 44971;44972;44973 | chr2:178608433;178608432;178608431 | chr2:179473160;179473159;179473158 |
| N2B | 8419 | 25480;25481;25482 | chr2:178608433;178608432;178608431 | chr2:179473160;179473159;179473158 |
| Novex-1 | 8544 | 25855;25856;25857 | chr2:178608433;178608432;178608431 | chr2:179473160;179473159;179473158 |
| Novex-2 | 8611 | 26056;26057;26058 | chr2:178608433;178608432;178608431 | chr2:179473160;179473159;179473158 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/I | None | None | 0.994 | D | 0.502 | 0.4 | 0.638019369227 | gnomAD-4.0.0 | 6.87006E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01892E-07 | 0 | 0 |
| S/N | None | None | 0.993 | N | 0.515 | 0.22 | 0.192905019026 | gnomAD-4.0.0 | 6.87006E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01892E-07 | 0 | 0 |
| S/T | None | None | 0.91 | N | 0.528 | 0.157 | 0.180583059064 | gnomAD-4.0.0 | 6.87006E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01892E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0674 | likely_benign | 0.0656 | benign | -0.242 | Destabilizing | 0.155 | N | 0.185 | neutral | None | None | None | None | N |
| S/C | 0.1241 | likely_benign | 0.1036 | benign | -0.491 | Destabilizing | 1.0 | D | 0.556 | neutral | N | 0.492011616 | None | None | N |
| S/D | 0.6806 | likely_pathogenic | 0.676 | pathogenic | -1.497 | Destabilizing | 0.985 | D | 0.515 | neutral | None | None | None | None | N |
| S/E | 0.5999 | likely_pathogenic | 0.6092 | pathogenic | -1.53 | Destabilizing | 0.985 | D | 0.491 | neutral | None | None | None | None | N |
| S/F | 0.4208 | ambiguous | 0.398 | ambiguous | -0.912 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| S/G | 0.0933 | likely_benign | 0.0822 | benign | -0.394 | Destabilizing | 0.835 | D | 0.523 | neutral | N | 0.471383862 | None | None | N |
| S/H | 0.4261 | ambiguous | 0.3953 | ambiguous | -1.079 | Destabilizing | 1.0 | D | 0.556 | neutral | None | None | None | None | N |
| S/I | 0.3358 | likely_benign | 0.3178 | benign | 0.041 | Stabilizing | 0.994 | D | 0.502 | neutral | D | 0.52843201 | None | None | N |
| S/K | 0.5477 | ambiguous | 0.5344 | ambiguous | -0.564 | Destabilizing | 0.97 | D | 0.493 | neutral | None | None | None | None | N |
| S/L | 0.1808 | likely_benign | 0.1634 | benign | 0.041 | Stabilizing | 0.97 | D | 0.527 | neutral | None | None | None | None | N |
| S/M | 0.3095 | likely_benign | 0.2713 | benign | 0.491 | Stabilizing | 1.0 | D | 0.561 | neutral | None | None | None | None | N |
| S/N | 0.2414 | likely_benign | 0.2163 | benign | -0.78 | Destabilizing | 0.993 | D | 0.515 | neutral | N | 0.484486445 | None | None | N |
| S/P | 0.3708 | ambiguous | 0.3664 | ambiguous | -0.024 | Destabilizing | 0.996 | D | 0.514 | neutral | None | None | None | None | N |
| S/Q | 0.474 | ambiguous | 0.4507 | ambiguous | -1.14 | Destabilizing | 0.999 | D | 0.517 | neutral | None | None | None | None | N |
| S/R | 0.4516 | ambiguous | 0.4579 | ambiguous | -0.298 | Destabilizing | 0.994 | D | 0.527 | neutral | N | 0.453664893 | None | None | N |
| S/T | 0.1613 | likely_benign | 0.1452 | benign | -0.582 | Destabilizing | 0.91 | D | 0.528 | neutral | N | 0.504168284 | None | None | N |
| S/V | 0.3075 | likely_benign | 0.2839 | benign | -0.024 | Destabilizing | 0.97 | D | 0.524 | neutral | None | None | None | None | N |
| S/W | 0.5265 | ambiguous | 0.5227 | ambiguous | -1.016 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| S/Y | 0.3051 | likely_benign | 0.2973 | benign | -0.62 | Destabilizing | 0.999 | D | 0.609 | 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.