Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6372 | 19339;19340;19341 | chr2:178728924;178728923;178728922 | chr2:179593651;179593650;179593649 |
| N2AB | 6055 | 18388;18389;18390 | chr2:178728924;178728923;178728922 | chr2:179593651;179593650;179593649 |
| N2A | 5128 | 15607;15608;15609 | chr2:178728924;178728923;178728922 | chr2:179593651;179593650;179593649 |
| 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/A | rs768519558  |
-1.037 | None | N | 0.114 | 0.08 | 0.40528724903 | gnomAD-2.1.1 | 8.13E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/A | rs768519558 |
-1.037 | None | N | 0.114 | 0.08 | 0.40528724903 | gnomAD-3.1.2 | 6.6E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs768519558 |
-1.037 | None | N | 0.114 | 0.08 | 0.40528724903 | gnomAD-4.0.0 | 3.86539E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.21838E-06 | 0 | 0 |
| V/G | rs768519558 |
-1.358 | 0.012 | N | 0.579 | 0.181 | 0.499281839539 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| V/G | rs768519558 |
-1.358 | 0.012 | N | 0.579 | 0.181 | 0.499281839539 | gnomAD-4.0.0 | 1.60117E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.78133E-05 | None | 0 | 0 | 0 | 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 | 0.108 | likely_benign | 0.1056 | benign | -1.175 | Destabilizing | None | N | 0.114 | neutral | N | 0.491498136 | None | None | I |
| V/C | 0.645 | likely_pathogenic | 0.6522 | pathogenic | -0.677 | Destabilizing | 0.676 | D | 0.52 | neutral | None | None | None | None | I |
| V/D | 0.1983 | likely_benign | 0.1938 | benign | -1.136 | Destabilizing | 0.055 | N | 0.561 | neutral | N | 0.493634364 | None | None | I |
| V/E | 0.1533 | likely_benign | 0.1512 | benign | -1.222 | Destabilizing | 0.038 | N | 0.558 | neutral | None | None | None | None | I |
| V/F | 0.1146 | likely_benign | 0.1147 | benign | -1.15 | Destabilizing | 0.171 | N | 0.531 | neutral | N | 0.481745289 | None | None | I |
| V/G | 0.1679 | likely_benign | 0.166 | benign | -1.385 | Destabilizing | 0.012 | N | 0.579 | neutral | N | 0.516511224 | None | None | I |
| V/H | 0.3777 | ambiguous | 0.3771 | ambiguous | -0.906 | Destabilizing | 0.356 | N | 0.573 | neutral | None | None | None | None | I |
| V/I | 0.0643 | likely_benign | 0.0629 | benign | -0.735 | Destabilizing | None | N | 0.179 | neutral | N | 0.447093998 | None | None | I |
| V/K | 0.2288 | likely_benign | 0.2269 | benign | -1.012 | Destabilizing | 0.038 | N | 0.555 | neutral | None | None | None | None | I |
| V/L | 0.1306 | likely_benign | 0.1356 | benign | -0.735 | Destabilizing | 0.004 | N | 0.289 | neutral | N | 0.491095491 | None | None | I |
| V/M | 0.0849 | likely_benign | 0.0845 | benign | -0.486 | Destabilizing | 0.214 | N | 0.447 | neutral | None | None | None | None | I |
| V/N | 0.1426 | likely_benign | 0.136 | benign | -0.658 | Destabilizing | 0.072 | N | 0.574 | neutral | None | None | None | None | I |
| V/P | 0.6246 | likely_pathogenic | 0.6595 | pathogenic | -0.847 | Destabilizing | 0.136 | N | 0.562 | neutral | None | None | None | None | I |
| V/Q | 0.1965 | likely_benign | 0.1958 | benign | -0.957 | Destabilizing | 0.003 | N | 0.331 | neutral | None | None | None | None | I |
| V/R | 0.2062 | likely_benign | 0.2081 | benign | -0.351 | Destabilizing | 0.072 | N | 0.573 | neutral | None | None | None | None | I |
| V/S | 0.1075 | likely_benign | 0.1038 | benign | -1.028 | Destabilizing | None | N | 0.289 | neutral | None | None | None | None | I |
| V/T | 0.0893 | likely_benign | 0.0853 | benign | -1.026 | Destabilizing | None | N | 0.136 | neutral | None | None | None | None | I |
| V/W | 0.5743 | likely_pathogenic | 0.5846 | pathogenic | -1.234 | Destabilizing | 0.864 | D | 0.591 | neutral | None | None | None | None | I |
| V/Y | 0.3538 | ambiguous | 0.3634 | ambiguous | -0.988 | Destabilizing | 0.356 | N | 0.525 | 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.