Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28895 | 86908;86909;86910 | chr2:178559449;178559448;178559447 | chr2:179424176;179424175;179424174 |
| N2AB | 27254 | 81985;81986;81987 | chr2:178559449;178559448;178559447 | chr2:179424176;179424175;179424174 |
| N2A | 26327 | 79204;79205;79206 | chr2:178559449;178559448;178559447 | chr2:179424176;179424175;179424174 |
| N2B | 19830 | 59713;59714;59715 | chr2:178559449;178559448;178559447 | chr2:179424176;179424175;179424174 |
| Novex-1 | 19955 | 60088;60089;60090 | chr2:178559449;178559448;178559447 | chr2:179424176;179424175;179424174 |
| Novex-2 | 20022 | 60289;60290;60291 | chr2:178559449;178559448;178559447 | chr2:179424176;179424175;179424174 |
| 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 | rs201290358  |
-0.506 | 0.881 | N | 0.552 | 0.204 | 0.449474494731 | gnomAD-2.1.1 | 1.33046E-03 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.13E-05 | None | 1.18332E-02 | None | 0 | 1.56E-05 | 1.12202E-03 |
| V/M | rs201290358 |
-0.506 | 0.881 | N | 0.552 | 0.204 | 0.449474494731 | gnomAD-3.1.2 | 3.87847E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.22204E-02 | 0 |
| V/M | rs201290358 |
-0.506 | 0.881 | N | 0.552 | 0.204 | 0.449474494731 | 1000 genomes | 2.99521E-03 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1.53E-02 | None |
| V/M | rs201290358 |
-0.506 | 0.881 | N | 0.552 | 0.204 | 0.449474494731 | gnomAD-4.0.0 | 6.99006E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23819E-06 | 1.18488E-02 | 7.04248E-04 |
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 | 0.4257 | ambiguous | 0.4097 | ambiguous | -1.479 | Destabilizing | 0.005 | N | 0.175 | neutral | N | 0.500010471 | None | None | N |
| V/C | 0.8359 | likely_pathogenic | 0.8665 | pathogenic | -1.121 | Destabilizing | 0.983 | D | 0.533 | neutral | None | None | None | None | N |
| V/D | 0.9543 | likely_pathogenic | 0.9521 | pathogenic | -1.084 | Destabilizing | 0.974 | D | 0.634 | neutral | None | None | None | None | N |
| V/E | 0.8807 | likely_pathogenic | 0.8725 | pathogenic | -1.008 | Destabilizing | 0.689 | D | 0.604 | neutral | N | 0.478356997 | None | None | N |
| V/F | 0.5089 | ambiguous | 0.4973 | ambiguous | -0.992 | Destabilizing | 0.932 | D | 0.545 | neutral | None | None | None | None | N |
| V/G | 0.7598 | likely_pathogenic | 0.7526 | pathogenic | -1.87 | Destabilizing | 0.726 | D | 0.576 | neutral | N | 0.493209249 | None | None | N |
| V/H | 0.9556 | likely_pathogenic | 0.9572 | pathogenic | -1.33 | Destabilizing | 0.996 | D | 0.627 | neutral | None | None | None | None | N |
| V/I | 0.0735 | likely_benign | 0.0747 | benign | -0.48 | Destabilizing | 0.002 | N | 0.154 | neutral | None | None | None | None | N |
| V/K | 0.9393 | likely_pathogenic | 0.9324 | pathogenic | -1.181 | Destabilizing | 0.865 | D | 0.602 | neutral | None | None | None | None | N |
| V/L | 0.3448 | ambiguous | 0.3567 | ambiguous | -0.48 | Destabilizing | None | N | 0.163 | neutral | N | 0.464223029 | None | None | N |
| V/M | 0.2622 | likely_benign | 0.2649 | benign | -0.481 | Destabilizing | 0.881 | D | 0.552 | neutral | N | 0.480131424 | None | None | N |
| V/N | 0.8551 | likely_pathogenic | 0.8654 | pathogenic | -1.169 | Destabilizing | 0.659 | D | 0.657 | neutral | None | None | None | None | N |
| V/P | 0.9724 | likely_pathogenic | 0.9735 | pathogenic | -0.778 | Destabilizing | 0.659 | D | 0.623 | neutral | None | None | None | None | N |
| V/Q | 0.8641 | likely_pathogenic | 0.8633 | pathogenic | -1.193 | Destabilizing | 0.902 | D | 0.633 | neutral | None | None | None | None | N |
| V/R | 0.9268 | likely_pathogenic | 0.9168 | pathogenic | -0.809 | Destabilizing | 0.932 | D | 0.642 | neutral | None | None | None | None | N |
| V/S | 0.67 | likely_pathogenic | 0.6721 | pathogenic | -1.794 | Destabilizing | 0.513 | D | 0.563 | neutral | None | None | None | None | N |
| V/T | 0.5121 | ambiguous | 0.5158 | ambiguous | -1.579 | Destabilizing | 0.459 | N | 0.497 | neutral | None | None | None | None | N |
| V/W | 0.9839 | likely_pathogenic | 0.9838 | pathogenic | -1.235 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| V/Y | 0.923 | likely_pathogenic | 0.9243 | pathogenic | -0.892 | Destabilizing | 0.988 | 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.