Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28513 | 85762;85763;85764 | chr2:178560595;178560594;178560593 | chr2:179425322;179425321;179425320 |
| N2AB | 26872 | 80839;80840;80841 | chr2:178560595;178560594;178560593 | chr2:179425322;179425321;179425320 |
| N2A | 25945 | 78058;78059;78060 | chr2:178560595;178560594;178560593 | chr2:179425322;179425321;179425320 |
| N2B | 19448 | 58567;58568;58569 | chr2:178560595;178560594;178560593 | chr2:179425322;179425321;179425320 |
| Novex-1 | 19573 | 58942;58943;58944 | chr2:178560595;178560594;178560593 | chr2:179425322;179425321;179425320 |
| Novex-2 | 19640 | 59143;59144;59145 | chr2:178560595;178560594;178560593 | chr2:179425322;179425321;179425320 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 0.994 | N | 0.769 | 0.41 | 0.529813890454 | gnomAD-4.0.0 | 1.36876E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5264E-05 | None | 0 | 0 | 8.99502E-07 | 0 | 0 |
| T/P | None | None | 0.067 | N | 0.342 | 0.314 | 0.29385284311 | gnomAD-4.0.0 | 3.60098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93752E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1189 | likely_benign | 0.1317 | benign | -0.481 | Destabilizing | 0.958 | D | 0.443 | neutral | N | 0.519060379 | None | None | N |
| T/C | 0.4572 | ambiguous | 0.5444 | ambiguous | -0.342 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| T/D | 0.4543 | ambiguous | 0.4914 | ambiguous | 0.001 | Stabilizing | 0.995 | D | 0.665 | neutral | None | None | None | None | N |
| T/E | 0.3573 | ambiguous | 0.3679 | ambiguous | -0.023 | Destabilizing | 0.991 | D | 0.67 | neutral | None | None | None | None | N |
| T/F | 0.3044 | likely_benign | 0.345 | ambiguous | -0.599 | Destabilizing | 0.998 | D | 0.809 | deleterious | None | None | None | None | N |
| T/G | 0.2377 | likely_benign | 0.2642 | benign | -0.706 | Destabilizing | 0.991 | D | 0.678 | prob.neutral | None | None | None | None | N |
| T/H | 0.2929 | likely_benign | 0.3131 | benign | -0.914 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| T/I | 0.2688 | likely_benign | 0.2981 | benign | 0.014 | Stabilizing | 0.994 | D | 0.769 | deleterious | N | 0.47609618 | None | None | N |
| T/K | 0.2116 | likely_benign | 0.1997 | benign | -0.664 | Destabilizing | 0.991 | D | 0.673 | neutral | None | None | None | None | N |
| T/L | 0.1219 | likely_benign | 0.13 | benign | 0.014 | Stabilizing | 0.968 | D | 0.56 | neutral | None | None | None | None | N |
| T/M | 0.1038 | likely_benign | 0.1062 | benign | 0.085 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| T/N | 0.1395 | likely_benign | 0.1536 | benign | -0.483 | Destabilizing | 0.994 | D | 0.666 | neutral | D | 0.522407328 | None | None | N |
| T/P | 0.1186 | likely_benign | 0.1318 | benign | -0.119 | Destabilizing | 0.067 | N | 0.342 | neutral | N | 0.511979691 | None | None | N |
| T/Q | 0.2225 | likely_benign | 0.2257 | benign | -0.626 | Destabilizing | 0.995 | D | 0.79 | deleterious | None | None | None | None | N |
| T/R | 0.1712 | likely_benign | 0.1653 | benign | -0.397 | Destabilizing | 0.995 | D | 0.783 | deleterious | None | None | None | None | N |
| T/S | 0.124 | likely_benign | 0.1386 | benign | -0.718 | Destabilizing | 0.958 | D | 0.403 | neutral | N | 0.478096404 | None | None | N |
| T/V | 0.1894 | likely_benign | 0.2117 | benign | -0.119 | Destabilizing | 0.984 | D | 0.468 | neutral | None | None | None | None | N |
| T/W | 0.5502 | ambiguous | 0.5743 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| T/Y | 0.3146 | likely_benign | 0.3572 | ambiguous | -0.361 | Destabilizing | 0.998 | D | 0.807 | 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.