Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29849 | 89770;89771;89772 | chr2:178553355;178553354;178553353 | chr2:179418082;179418081;179418080 |
| N2AB | 28208 | 84847;84848;84849 | chr2:178553355;178553354;178553353 | chr2:179418082;179418081;179418080 |
| N2A | 27281 | 82066;82067;82068 | chr2:178553355;178553354;178553353 | chr2:179418082;179418081;179418080 |
| N2B | 20784 | 62575;62576;62577 | chr2:178553355;178553354;178553353 | chr2:179418082;179418081;179418080 |
| Novex-1 | 20909 | 62950;62951;62952 | chr2:178553355;178553354;178553353 | chr2:179418082;179418081;179418080 |
| Novex-2 | 20976 | 63151;63152;63153 | chr2:178553355;178553354;178553353 | chr2:179418082;179418081;179418080 |
| 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 | rs727504493  |
None | 0.062 | N | 0.459 | 0.323 | 0.319114376414 | gnomAD-4.0.0 | 4.14362E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.41946E-06 | 0 | 0 |
| V/L | None | None | 0.004 | N | 0.282 | 0.183 | 0.0884992946249 | gnomAD-4.0.0 | 6.90603E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03243E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4914 | ambiguous | 0.4266 | ambiguous | -1.159 | Destabilizing | 0.052 | N | 0.385 | neutral | D | 0.538084149 | None | None | I |
| V/C | 0.744 | likely_pathogenic | 0.7118 | pathogenic | -1.109 | Destabilizing | 0.935 | D | 0.455 | neutral | None | None | None | None | I |
| V/D | 0.8403 | likely_pathogenic | 0.7545 | pathogenic | -0.305 | Destabilizing | 0.484 | N | 0.553 | neutral | N | 0.520987284 | None | None | I |
| V/E | 0.7056 | likely_pathogenic | 0.6127 | pathogenic | -0.289 | Destabilizing | 0.555 | D | 0.515 | neutral | None | None | None | None | I |
| V/F | 0.1613 | likely_benign | 0.1542 | benign | -0.813 | Destabilizing | 0.062 | N | 0.459 | neutral | N | 0.501869071 | None | None | I |
| V/G | 0.6081 | likely_pathogenic | 0.5188 | ambiguous | -1.481 | Destabilizing | 0.211 | N | 0.533 | neutral | D | 0.53833107 | None | None | I |
| V/H | 0.7409 | likely_pathogenic | 0.7003 | pathogenic | -1.03 | Destabilizing | 0.38 | N | 0.561 | neutral | None | None | None | None | I |
| V/I | 0.0662 | likely_benign | 0.0686 | benign | -0.388 | Destabilizing | None | N | 0.118 | neutral | N | 0.458737931 | None | None | I |
| V/K | 0.6434 | likely_pathogenic | 0.5782 | pathogenic | -0.901 | Destabilizing | 0.555 | D | 0.516 | neutral | None | None | None | None | I |
| V/L | 0.1608 | likely_benign | 0.1621 | benign | -0.388 | Destabilizing | 0.004 | N | 0.282 | neutral | N | 0.440344171 | None | None | I |
| V/M | 0.158 | likely_benign | 0.149 | benign | -0.503 | Destabilizing | 0.38 | N | 0.456 | neutral | None | None | None | None | I |
| V/N | 0.6592 | likely_pathogenic | 0.5794 | pathogenic | -0.739 | Destabilizing | 0.791 | D | 0.56 | neutral | None | None | None | None | I |
| V/P | 0.9359 | likely_pathogenic | 0.8997 | pathogenic | -0.608 | Destabilizing | 0.791 | D | 0.517 | neutral | None | None | None | None | I |
| V/Q | 0.6057 | likely_pathogenic | 0.5321 | ambiguous | -0.804 | Destabilizing | 0.791 | D | 0.531 | neutral | None | None | None | None | I |
| V/R | 0.5709 | likely_pathogenic | 0.518 | ambiguous | -0.582 | Destabilizing | 0.555 | D | 0.568 | neutral | None | None | None | None | I |
| V/S | 0.6108 | likely_pathogenic | 0.5339 | ambiguous | -1.387 | Destabilizing | 0.262 | N | 0.477 | neutral | None | None | None | None | I |
| V/T | 0.5043 | ambiguous | 0.437 | ambiguous | -1.238 | Destabilizing | 0.149 | N | 0.409 | neutral | None | None | None | None | I |
| V/W | 0.793 | likely_pathogenic | 0.7654 | pathogenic | -0.963 | Destabilizing | 0.824 | D | 0.545 | neutral | None | None | None | None | I |
| V/Y | 0.5138 | ambiguous | 0.4754 | ambiguous | -0.65 | Destabilizing | 0.001 | N | 0.191 | 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.