Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16142 | 48649;48650;48651 | chr2:178615677;178615676;178615675 | chr2:179480404;179480403;179480402 |
| N2AB | 14501 | 43726;43727;43728 | chr2:178615677;178615676;178615675 | chr2:179480404;179480403;179480402 |
| N2A | 13574 | 40945;40946;40947 | chr2:178615677;178615676;178615675 | chr2:179480404;179480403;179480402 |
| N2B | 7077 | 21454;21455;21456 | chr2:178615677;178615676;178615675 | chr2:179480404;179480403;179480402 |
| Novex-1 | 7202 | 21829;21830;21831 | chr2:178615677;178615676;178615675 | chr2:179480404;179480403;179480402 |
| Novex-2 | 7269 | 22030;22031;22032 | chr2:178615677;178615676;178615675 | chr2:179480404;179480403;179480402 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs761603067  |
-1.069 | 1.0 | N | 0.837 | 0.335 | 0.524063890018 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| Y/D | None | None | 0.999 | N | 0.809 | 0.545 | 0.677256655742 | gnomAD-4.0.0 | 1.59393E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86425E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.3578 | ambiguous | 0.3539 | ambiguous | -1.375 | Destabilizing | 0.999 | D | 0.788 | deleterious | None | None | None | None | N |
| Y/C | 0.1162 | likely_benign | 0.1309 | benign | -0.468 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.502633461 | None | None | N |
| Y/D | 0.2644 | likely_benign | 0.2737 | benign | -0.182 | Destabilizing | 0.999 | D | 0.809 | deleterious | N | 0.463877613 | None | None | N |
| Y/E | 0.4969 | ambiguous | 0.5138 | ambiguous | -0.14 | Destabilizing | 0.999 | D | 0.81 | deleterious | None | None | None | None | N |
| Y/F | 0.078 | likely_benign | 0.0805 | benign | -0.55 | Destabilizing | 0.997 | D | 0.772 | deleterious | N | 0.502633461 | None | None | N |
| Y/G | 0.4063 | ambiguous | 0.3975 | ambiguous | -1.628 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| Y/H | 0.2292 | likely_benign | 0.2423 | benign | -0.28 | Destabilizing | 0.999 | D | 0.766 | deleterious | N | 0.497455893 | None | None | N |
| Y/I | 0.3625 | ambiguous | 0.3583 | ambiguous | -0.652 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| Y/K | 0.6303 | likely_pathogenic | 0.6308 | pathogenic | -0.637 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| Y/L | 0.3705 | ambiguous | 0.3762 | ambiguous | -0.652 | Destabilizing | 0.998 | D | 0.813 | deleterious | None | None | None | None | N |
| Y/M | 0.4812 | ambiguous | 0.4804 | ambiguous | -0.57 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| Y/N | 0.1798 | likely_benign | 0.1838 | benign | -1.011 | Destabilizing | 0.999 | D | 0.819 | deleterious | N | 0.483294183 | None | None | N |
| Y/P | 0.7063 | likely_pathogenic | 0.7129 | pathogenic | -0.881 | Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| Y/Q | 0.5211 | ambiguous | 0.5206 | ambiguous | -0.902 | Destabilizing | 0.999 | D | 0.764 | deleterious | None | None | None | None | N |
| Y/R | 0.4745 | ambiguous | 0.4736 | ambiguous | -0.346 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| Y/S | 0.1485 | likely_benign | 0.145 | benign | -1.381 | Destabilizing | 0.999 | D | 0.813 | deleterious | N | 0.484016625 | None | None | N |
| Y/T | 0.2833 | likely_benign | 0.2763 | benign | -1.244 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
| Y/V | 0.2406 | likely_benign | 0.241 | benign | -0.881 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| Y/W | 0.3534 | ambiguous | 0.3456 | ambiguous | -0.428 | Destabilizing | 1.0 | D | 0.759 | deleterious | 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.