Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7278 | 22057;22058;22059 | chr2:178723175;178723174;178723173 | chr2:179587902;179587901;179587900 |
| N2AB | 6961 | 21106;21107;21108 | chr2:178723175;178723174;178723173 | chr2:179587902;179587901;179587900 |
| N2A | 6034 | 18325;18326;18327 | chr2:178723175;178723174;178723173 | chr2:179587902;179587901;179587900 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/K | rs766571996  |
-1.534 | 0.81 | D | 0.611 | 0.567 | 0.829891500076 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| I/K | rs766571996 |
-1.534 | 0.81 | D | 0.611 | 0.567 | 0.829891500076 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/K | rs766571996 |
-1.534 | 0.81 | D | 0.611 | 0.567 | 0.829891500076 | gnomAD-4.0.0 | 1.67353E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.28883E-05 | 0 | 0 |
| I/V | None | None | 0.004 | N | 0.149 | 0.102 | 0.321672782286 | gnomAD-4.0.0 | 1.59194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85923E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.279 | likely_benign | 0.2655 | benign | -2.12 | Highly Destabilizing | 0.25 | N | 0.432 | neutral | None | None | None | None | N |
| I/C | 0.7921 | likely_pathogenic | 0.7679 | pathogenic | -1.279 | Destabilizing | 0.992 | D | 0.513 | neutral | None | None | None | None | N |
| I/D | 0.8788 | likely_pathogenic | 0.8464 | pathogenic | -1.847 | Destabilizing | 0.92 | D | 0.612 | neutral | None | None | None | None | N |
| I/E | 0.7312 | likely_pathogenic | 0.6868 | pathogenic | -1.781 | Destabilizing | 0.92 | D | 0.618 | neutral | None | None | None | None | N |
| I/F | 0.1915 | likely_benign | 0.183 | benign | -1.458 | Destabilizing | 0.739 | D | 0.489 | neutral | None | None | None | None | N |
| I/G | 0.7926 | likely_pathogenic | 0.7602 | pathogenic | -2.53 | Highly Destabilizing | 0.85 | D | 0.609 | neutral | None | None | None | None | N |
| I/H | 0.6521 | likely_pathogenic | 0.6246 | pathogenic | -1.849 | Destabilizing | 0.992 | D | 0.605 | neutral | None | None | None | None | N |
| I/K | 0.5136 | ambiguous | 0.4757 | ambiguous | -1.539 | Destabilizing | 0.81 | D | 0.611 | neutral | D | 0.525249564 | None | None | N |
| I/L | 0.1396 | likely_benign | 0.1386 | benign | -1.016 | Destabilizing | 0.002 | N | 0.11 | neutral | N | 0.511529479 | None | None | N |
| I/M | 0.1063 | likely_benign | 0.1034 | benign | -0.735 | Destabilizing | 0.099 | N | 0.339 | neutral | D | 0.527211007 | None | None | N |
| I/N | 0.5575 | ambiguous | 0.5097 | ambiguous | -1.424 | Destabilizing | 0.85 | D | 0.613 | neutral | None | None | None | None | N |
| I/P | 0.8803 | likely_pathogenic | 0.8438 | pathogenic | -1.356 | Destabilizing | 0.92 | D | 0.613 | neutral | None | None | None | None | N |
| I/Q | 0.5953 | likely_pathogenic | 0.5576 | ambiguous | -1.531 | Destabilizing | 0.92 | D | 0.617 | neutral | None | None | None | None | N |
| I/R | 0.3644 | ambiguous | 0.3233 | benign | -0.998 | Destabilizing | 0.896 | D | 0.611 | neutral | N | 0.518755103 | None | None | N |
| I/S | 0.4062 | ambiguous | 0.3784 | ambiguous | -2.07 | Highly Destabilizing | 0.447 | N | 0.538 | neutral | None | None | None | None | N |
| I/T | 0.1566 | likely_benign | 0.1495 | benign | -1.878 | Destabilizing | 0.016 | N | 0.289 | neutral | D | 0.531483463 | None | None | N |
| I/V | 0.0784 | likely_benign | 0.0765 | benign | -1.356 | Destabilizing | 0.004 | N | 0.149 | neutral | N | 0.498173392 | None | None | N |
| I/W | 0.7893 | likely_pathogenic | 0.7744 | pathogenic | -1.642 | Destabilizing | 0.992 | D | 0.639 | neutral | None | None | None | None | N |
| I/Y | 0.5644 | likely_pathogenic | 0.5368 | ambiguous | -1.411 | Destabilizing | 0.92 | D | 0.536 | 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.