Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 92 | 499;500;501 | chr2:178802159;178802158;178802157 | chr2:179666886;179666885;179666884 |
| N2AB | 92 | 499;500;501 | chr2:178802159;178802158;178802157 | chr2:179666886;179666885;179666884 |
| N2A | 92 | 499;500;501 | chr2:178802159;178802158;178802157 | chr2:179666886;179666885;179666884 |
| N2B | 92 | 499;500;501 | chr2:178802159;178802158;178802157 | chr2:179666886;179666885;179666884 |
| Novex-1 | 92 | 499;500;501 | chr2:178802159;178802158;178802157 | chr2:179666886;179666885;179666884 |
| Novex-2 | 92 | 499;500;501 | chr2:178802159;178802158;178802157 | chr2:179666886;179666885;179666884 |
| Novex-3 | 92 | 499;500;501 | chr2:178802159;178802158;178802157 | chr2:179666886;179666885;179666884 |
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/A | rs767442718  |
-0.6 | 0.998 | N | 0.631 | 0.415 | 0.416707687347 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -1.719(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.6292E-04 |
| T/A | rs767442718 |
-0.6 | 0.998 | N | 0.631 | 0.415 | 0.416707687347 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -1.719(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| T/A | rs767442718 |
-0.6 | 0.998 | N | 0.631 | 0.415 | 0.416707687347 | gnomAD-4.0.0 | 2.56113E-06 | None | None | None | -1.719(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 3.13666E-05 | 0 | 0 | 0 | 0 |
| T/S | rs767442718 |
-0.244 | 0.998 | N | 0.603 | 0.387 | 0.358340041657 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -2.022(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/S | rs767442718 |
-0.244 | 0.998 | N | 0.603 | 0.387 | 0.358340041657 | gnomAD-4.0.0 | 1.5905E-06 | None | None | None | -2.022(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 | 0.1219 | likely_benign | 0.1161 | benign | -0.734 | Destabilizing | 0.998 | D | 0.631 | neutral | N | 0.512199646 | None | -1.719(TCAP) | N |
| T/C | 0.8281 | likely_pathogenic | 0.8233 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | -0.528(TCAP) | N |
| T/D | 0.5897 | likely_pathogenic | 0.5508 | ambiguous | -0.262 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | -1.91(TCAP) | N |
| T/E | 0.3719 | ambiguous | 0.3566 | ambiguous | -0.316 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | -1.989(TCAP) | N |
| T/F | 0.3671 | ambiguous | 0.3276 | benign | -1.082 | Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | -1.004(TCAP) | N |
| T/G | 0.4623 | ambiguous | 0.4482 | ambiguous | -0.912 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | -1.68(TCAP) | N |
| T/H | 0.4067 | ambiguous | 0.398 | ambiguous | -1.279 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | -0.642(TCAP) | N |
| T/I | 0.2436 | likely_benign | 0.2076 | benign | -0.363 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.576374509 | None | -1.881(TCAP) | N |
| T/K | 0.3211 | likely_benign | 0.3107 | benign | -0.592 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | -2.672(TCAP) | N |
| T/L | 0.1723 | likely_benign | 0.1541 | benign | -0.363 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | -1.881(TCAP) | N |
| T/M | 0.1197 | likely_benign | 0.1132 | benign | 0.099 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | -0.385(TCAP) | N |
| T/N | 0.2503 | likely_benign | 0.224 | benign | -0.394 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.506143532 | None | -1.077(TCAP) | N |
| T/P | 0.4428 | ambiguous | 0.4633 | ambiguous | -0.458 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.592986555 | None | -1.82(TCAP) | N |
| T/Q | 0.2989 | likely_benign | 0.2858 | benign | -0.718 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | -1.569(TCAP) | N |
| T/R | 0.2642 | likely_benign | 0.2514 | benign | -0.265 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | -1.904(TCAP) | N |
| T/S | 0.1497 | likely_benign | 0.139 | benign | -0.649 | Destabilizing | 0.998 | D | 0.603 | neutral | N | 0.412275645 | None | -2.022(TCAP) | N |
| T/V | 0.1807 | likely_benign | 0.1566 | benign | -0.458 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | -1.82(TCAP) | N |
| T/W | 0.7337 | likely_pathogenic | 0.7206 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | -0.625(TCAP) | N |
| T/Y | 0.4829 | ambiguous | 0.4522 | ambiguous | -0.745 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | -0.534(TCAP) | 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.