Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18565 | 55918;55919;55920 | chr2:178601304;178601303;178601302 | chr2:179466031;179466030;179466029 |
| N2AB | 16924 | 50995;50996;50997 | chr2:178601304;178601303;178601302 | chr2:179466031;179466030;179466029 |
| N2A | 15997 | 48214;48215;48216 | chr2:178601304;178601303;178601302 | chr2:179466031;179466030;179466029 |
| N2B | 9500 | 28723;28724;28725 | chr2:178601304;178601303;178601302 | chr2:179466031;179466030;179466029 |
| Novex-1 | 9625 | 29098;29099;29100 | chr2:178601304;178601303;178601302 | chr2:179466031;179466030;179466029 |
| Novex-2 | 9692 | 29299;29300;29301 | chr2:178601304;178601303;178601302 | chr2:179466031;179466030;179466029 |
| 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/M | rs2053387204  |
None | 0.484 | N | 0.583 | 0.132 | 0.245660935333 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs2053387204 |
None | 0.484 | N | 0.583 | 0.132 | 0.245660935333 | gnomAD-4.0.0 | 3.13507E-06 | None | None | None | None | N | None | 0 | 1.71987E-05 | None | 0 | 0 | None | 0 | 0 | 3.42001E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0853 | likely_benign | 0.0756 | benign | -1.689 | Destabilizing | None | N | 0.253 | neutral | N | 0.421064111 | None | None | N |
| V/C | 0.4846 | ambiguous | 0.5076 | ambiguous | -1.179 | Destabilizing | 0.824 | D | 0.532 | neutral | None | None | None | None | N |
| V/D | 0.7024 | likely_pathogenic | 0.5714 | pathogenic | -1.806 | Destabilizing | 0.38 | N | 0.609 | neutral | None | None | None | None | N |
| V/E | 0.527 | ambiguous | 0.4191 | ambiguous | -1.703 | Destabilizing | 0.117 | N | 0.561 | neutral | N | 0.497812741 | None | None | N |
| V/F | 0.4023 | ambiguous | 0.3049 | benign | -1.012 | Destabilizing | 0.555 | D | 0.551 | neutral | None | None | None | None | N |
| V/G | 0.273 | likely_benign | 0.21 | benign | -2.114 | Highly Destabilizing | 0.062 | N | 0.6 | neutral | N | 0.497812741 | None | None | N |
| V/H | 0.7513 | likely_pathogenic | 0.67 | pathogenic | -1.753 | Destabilizing | 0.935 | D | 0.623 | neutral | None | None | None | None | N |
| V/I | 0.0989 | likely_benign | 0.0878 | benign | -0.569 | Destabilizing | 0.067 | N | 0.525 | neutral | None | None | None | None | N |
| V/K | 0.598 | likely_pathogenic | 0.4885 | ambiguous | -1.551 | Destabilizing | 0.149 | N | 0.557 | neutral | None | None | None | None | N |
| V/L | 0.2793 | likely_benign | 0.2124 | benign | -0.569 | Destabilizing | 0.027 | N | 0.481 | neutral | N | 0.418101164 | None | None | N |
| V/M | 0.1886 | likely_benign | 0.1535 | benign | -0.525 | Destabilizing | 0.484 | N | 0.583 | neutral | N | 0.516918577 | None | None | N |
| V/N | 0.4695 | ambiguous | 0.3675 | ambiguous | -1.526 | Destabilizing | 0.555 | D | 0.609 | neutral | None | None | None | None | N |
| V/P | 0.9426 | likely_pathogenic | 0.9053 | pathogenic | -0.91 | Destabilizing | 0.38 | N | 0.577 | neutral | None | None | None | None | N |
| V/Q | 0.4303 | ambiguous | 0.3692 | ambiguous | -1.541 | Destabilizing | 0.555 | D | 0.575 | neutral | None | None | None | None | N |
| V/R | 0.5241 | ambiguous | 0.4204 | ambiguous | -1.18 | Destabilizing | 0.38 | N | 0.616 | neutral | None | None | None | None | N |
| V/S | 0.1759 | likely_benign | 0.1454 | benign | -2.095 | Highly Destabilizing | 0.081 | N | 0.542 | neutral | None | None | None | None | N |
| V/T | 0.1152 | likely_benign | 0.1001 | benign | -1.872 | Destabilizing | 0.001 | N | 0.246 | neutral | None | None | None | None | N |
| V/W | 0.9301 | likely_pathogenic | 0.8898 | pathogenic | -1.381 | Destabilizing | 0.935 | D | 0.661 | neutral | None | None | None | None | N |
| V/Y | 0.7334 | likely_pathogenic | 0.6574 | pathogenic | -1.035 | Destabilizing | 0.555 | D | 0.559 | 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.