Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28068 | 84427;84428;84429 | chr2:178561930;178561929;178561928 | chr2:179426657;179426656;179426655 |
| N2AB | 26427 | 79504;79505;79506 | chr2:178561930;178561929;178561928 | chr2:179426657;179426656;179426655 |
| N2A | 25500 | 76723;76724;76725 | chr2:178561930;178561929;178561928 | chr2:179426657;179426656;179426655 |
| N2B | 19003 | 57232;57233;57234 | chr2:178561930;178561929;178561928 | chr2:179426657;179426656;179426655 |
| Novex-1 | 19128 | 57607;57608;57609 | chr2:178561930;178561929;178561928 | chr2:179426657;179426656;179426655 |
| Novex-2 | 19195 | 57808;57809;57810 | chr2:178561930;178561929;178561928 | chr2:179426657;179426656;179426655 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/T | rs72648219  |
-0.559 | 0.999 | N | 0.466 | 0.218 | None | gnomAD-2.1.1 | 5.01E-05 | None | None | None | None | N | None | 5.78656E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs72648219 |
-0.559 | 0.999 | N | 0.466 | 0.218 | None | gnomAD-3.1.2 | 1.77438E-04 | None | None | None | None | N | None | 5.54966E-04 | 1.96438E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| S/T | rs72648219 |
-0.559 | 0.999 | N | 0.466 | 0.218 | None | gnomAD-4.0.0 | 2.54116E-05 | None | None | None | None | N | None | 4.93966E-04 | 5.003E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60164E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1522 | likely_benign | 0.1336 | benign | -0.83 | Destabilizing | 0.998 | D | 0.435 | neutral | None | None | None | None | N |
| S/C | 0.1791 | likely_benign | 0.1704 | benign | -0.696 | Destabilizing | 1.0 | D | 0.75 | deleterious | N | 0.512874121 | None | None | N |
| S/D | 0.7024 | likely_pathogenic | 0.6647 | pathogenic | -1.113 | Destabilizing | 0.999 | D | 0.626 | neutral | None | None | None | None | N |
| S/E | 0.8961 | likely_pathogenic | 0.863 | pathogenic | -1.042 | Destabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
| S/F | 0.523 | ambiguous | 0.4405 | ambiguous | -0.91 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| S/G | 0.1415 | likely_benign | 0.1183 | benign | -1.134 | Destabilizing | 0.999 | D | 0.459 | neutral | N | 0.509091314 | None | None | N |
| S/H | 0.6711 | likely_pathogenic | 0.6396 | pathogenic | -1.595 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| S/I | 0.5754 | likely_pathogenic | 0.4652 | ambiguous | -0.109 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.501517816 | None | None | N |
| S/K | 0.9375 | likely_pathogenic | 0.9166 | pathogenic | -0.736 | Destabilizing | 0.999 | D | 0.607 | neutral | None | None | None | None | N |
| S/L | 0.2084 | likely_benign | 0.1705 | benign | -0.109 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| S/M | 0.399 | ambiguous | 0.3411 | ambiguous | 0.145 | Stabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| S/N | 0.3145 | likely_benign | 0.2578 | benign | -1.048 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.511592902 | None | None | N |
| S/P | 0.9473 | likely_pathogenic | 0.9133 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| S/Q | 0.8276 | likely_pathogenic | 0.7916 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| S/R | 0.9009 | likely_pathogenic | 0.8703 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.515769357 | None | None | N |
| S/T | 0.0908 | likely_benign | 0.0859 | benign | -0.884 | Destabilizing | 0.999 | D | 0.466 | neutral | N | 0.406540163 | None | None | N |
| S/V | 0.513 | ambiguous | 0.4289 | ambiguous | -0.315 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| S/W | 0.7308 | likely_pathogenic | 0.6731 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| S/Y | 0.4614 | ambiguous | 0.3973 | ambiguous | -0.654 | Destabilizing | 1.0 | D | 0.81 | 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.