Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6894 | 20905;20906;20907 | chr2:178725524;178725523;178725522 | chr2:179590251;179590250;179590249 |
| N2AB | 6577 | 19954;19955;19956 | chr2:178725524;178725523;178725522 | chr2:179590251;179590250;179590249 |
| N2A | 5650 | 17173;17174;17175 | chr2:178725524;178725523;178725522 | chr2:179590251;179590250;179590249 |
| 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/E | rs770809224  |
-0.658 | 0.051 | N | 0.278 | 0.268 | 0.729473838802 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| V/G | None | None | 0.966 | N | 0.425 | 0.439 | 0.883596567177 | gnomAD-4.0.0 | 1.59268E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86059E-06 | 0 | 0 |
| V/L | rs774362265 |
-0.172 | 0.005 | N | 0.189 | 0.186 | 0.318540980066 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs774362265 |
-0.172 | 0.005 | N | 0.189 | 0.186 | 0.318540980066 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/L | rs774362265 |
-0.172 | 0.005 | N | 0.189 | 0.186 | 0.318540980066 | gnomAD-4.0.0 | 1.67373E-05 | None | None | None | None | N | None | 1.33547E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.20436E-05 | 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 | 0.2552 | likely_benign | 0.1774 | benign | -0.964 | Destabilizing | 0.625 | D | 0.315 | neutral | N | 0.491173285 | None | None | N |
| V/C | 0.8192 | likely_pathogenic | 0.7554 | pathogenic | -0.693 | Destabilizing | 0.998 | D | 0.413 | neutral | None | None | None | None | N |
| V/D | 0.4067 | ambiguous | 0.2985 | benign | -0.856 | Destabilizing | 0.904 | D | 0.425 | neutral | None | None | None | None | N |
| V/E | 0.3455 | ambiguous | 0.2355 | benign | -0.928 | Destabilizing | 0.051 | N | 0.278 | neutral | N | 0.489398859 | None | None | N |
| V/F | 0.1737 | likely_benign | 0.1531 | benign | -0.881 | Destabilizing | 0.949 | D | 0.391 | neutral | None | None | None | None | N |
| V/G | 0.2428 | likely_benign | 0.1989 | benign | -1.177 | Destabilizing | 0.966 | D | 0.425 | neutral | N | 0.511051967 | None | None | N |
| V/H | 0.7221 | likely_pathogenic | 0.5805 | pathogenic | -0.709 | Destabilizing | 0.998 | D | 0.467 | neutral | None | None | None | None | N |
| V/I | 0.0756 | likely_benign | 0.0683 | benign | -0.518 | Destabilizing | 0.007 | N | 0.2 | neutral | None | None | None | None | N |
| V/K | 0.531 | ambiguous | 0.3692 | ambiguous | -0.956 | Destabilizing | 0.842 | D | 0.414 | neutral | None | None | None | None | N |
| V/L | 0.1918 | likely_benign | 0.1576 | benign | -0.518 | Destabilizing | 0.005 | N | 0.189 | neutral | N | 0.481494573 | None | None | N |
| V/M | 0.147 | likely_benign | 0.1248 | benign | -0.462 | Destabilizing | 0.934 | D | 0.409 | neutral | N | 0.488339356 | None | None | N |
| V/N | 0.3427 | ambiguous | 0.2253 | benign | -0.661 | Destabilizing | 0.974 | D | 0.465 | neutral | None | None | None | None | N |
| V/P | 0.4904 | ambiguous | 0.3018 | benign | -0.632 | Destabilizing | 0.991 | D | 0.448 | neutral | None | None | None | None | N |
| V/Q | 0.4843 | ambiguous | 0.3294 | benign | -0.898 | Destabilizing | 0.949 | D | 0.449 | neutral | None | None | None | None | N |
| V/R | 0.5292 | ambiguous | 0.3824 | ambiguous | -0.365 | Destabilizing | 0.949 | D | 0.465 | neutral | None | None | None | None | N |
| V/S | 0.3533 | ambiguous | 0.2347 | benign | -1.037 | Destabilizing | 0.842 | D | 0.401 | neutral | None | None | None | None | N |
| V/T | 0.2887 | likely_benign | 0.1935 | benign | -1.014 | Destabilizing | 0.842 | D | 0.291 | neutral | None | None | None | None | N |
| V/W | 0.764 | likely_pathogenic | 0.6981 | pathogenic | -1.0 | Destabilizing | 0.998 | D | 0.561 | neutral | None | None | None | None | N |
| V/Y | 0.5212 | ambiguous | 0.447 | ambiguous | -0.735 | Destabilizing | 0.991 | D | 0.396 | 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.