Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22204 | 66835;66836;66837 | chr2:178581658;178581657;178581656 | chr2:179446385;179446384;179446383 |
| N2AB | 20563 | 61912;61913;61914 | chr2:178581658;178581657;178581656 | chr2:179446385;179446384;179446383 |
| N2A | 19636 | 59131;59132;59133 | chr2:178581658;178581657;178581656 | chr2:179446385;179446384;179446383 |
| N2B | 13139 | 39640;39641;39642 | chr2:178581658;178581657;178581656 | chr2:179446385;179446384;179446383 |
| Novex-1 | 13264 | 40015;40016;40017 | chr2:178581658;178581657;178581656 | chr2:179446385;179446384;179446383 |
| Novex-2 | 13331 | 40216;40217;40218 | chr2:178581658;178581657;178581656 | chr2:179446385;179446384;179446383 |
| 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 | None | None | 0.309 | N | 0.253 | 0.11 | 0.408307896497 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/M | rs376238023  |
-0.284 | 0.164 | N | 0.159 | 0.074 | None | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/M | rs376238023 |
-0.284 | 0.164 | N | 0.159 | 0.074 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs376238023 |
-0.284 | 0.164 | N | 0.159 | 0.074 | None | gnomAD-4.0.0 | 5.39495E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.24044E-05 | None | 0 | 0 | 7.20787E-05 | 0 | 1.60282E-05 |
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 | 0.2926 | likely_benign | 0.2834 | benign | -0.89 | Destabilizing | 0.309 | N | 0.253 | neutral | N | 0.48683053 | None | None | I |
| V/C | 0.6856 | likely_pathogenic | 0.6658 | pathogenic | -0.693 | Destabilizing | 0.996 | D | 0.317 | neutral | None | None | None | None | I |
| V/D | 0.4483 | ambiguous | 0.4179 | ambiguous | -0.749 | Destabilizing | 0.91 | D | 0.36 | neutral | None | None | None | None | I |
| V/E | 0.2494 | likely_benign | 0.2225 | benign | -0.815 | Destabilizing | 0.521 | D | 0.305 | neutral | N | 0.457259772 | None | None | I |
| V/F | 0.192 | likely_benign | 0.1794 | benign | -0.805 | Destabilizing | 0.91 | D | 0.348 | neutral | None | None | None | None | I |
| V/G | 0.3201 | likely_benign | 0.3216 | benign | -1.103 | Destabilizing | 0.684 | D | 0.321 | neutral | N | 0.476345989 | None | None | I |
| V/H | 0.4667 | ambiguous | 0.4337 | ambiguous | -0.573 | Destabilizing | 0.987 | D | 0.336 | neutral | None | None | None | None | I |
| V/I | 0.0762 | likely_benign | 0.0757 | benign | -0.447 | Destabilizing | 0.004 | N | 0.117 | neutral | None | None | None | None | I |
| V/K | 0.2921 | likely_benign | 0.2723 | benign | -0.864 | Destabilizing | 0.009 | N | 0.268 | neutral | None | None | None | None | I |
| V/L | 0.1728 | likely_benign | 0.167 | benign | -0.447 | Destabilizing | 0.164 | N | 0.157 | neutral | N | 0.478384405 | None | None | I |
| V/M | 0.1556 | likely_benign | 0.1495 | benign | -0.429 | Destabilizing | 0.164 | N | 0.159 | neutral | N | 0.455086258 | None | None | I |
| V/N | 0.2954 | likely_benign | 0.2762 | benign | -0.629 | Destabilizing | 0.91 | D | 0.355 | neutral | None | None | None | None | I |
| V/P | 0.9 | likely_pathogenic | 0.9024 | pathogenic | -0.559 | Destabilizing | 0.953 | D | 0.342 | neutral | None | None | None | None | I |
| V/Q | 0.2293 | likely_benign | 0.2108 | benign | -0.849 | Destabilizing | 0.91 | D | 0.353 | neutral | None | None | None | None | I |
| V/R | 0.2859 | likely_benign | 0.279 | benign | -0.275 | Destabilizing | 0.835 | D | 0.351 | neutral | None | None | None | None | I |
| V/S | 0.278 | likely_benign | 0.2697 | benign | -1.02 | Destabilizing | 0.59 | D | 0.287 | neutral | None | None | None | None | I |
| V/T | 0.2284 | likely_benign | 0.2166 | benign | -0.987 | Destabilizing | 0.016 | N | 0.087 | neutral | None | None | None | None | I |
| V/W | 0.7581 | likely_pathogenic | 0.743 | pathogenic | -0.929 | Destabilizing | 0.996 | D | 0.385 | neutral | None | None | None | None | I |
| V/Y | 0.4485 | ambiguous | 0.4288 | ambiguous | -0.651 | Destabilizing | 0.984 | D | 0.339 | 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.