Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14563 | 43912;43913;43914 | chr2:178632207;178632206;178632205 | chr2:179496934;179496933;179496932 |
| N2AB | 12922 | 38989;38990;38991 | chr2:178632207;178632206;178632205 | chr2:179496934;179496933;179496932 |
| N2A | 11995 | 36208;36209;36210 | chr2:178632207;178632206;178632205 | chr2:179496934;179496933;179496932 |
| N2B | 5498 | 16717;16718;16719 | chr2:178632207;178632206;178632205 | chr2:179496934;179496933;179496932 |
| Novex-1 | 5623 | 17092;17093;17094 | chr2:178632207;178632206;178632205 | chr2:179496934;179496933;179496932 |
| Novex-2 | 5690 | 17293;17294;17295 | chr2:178632207;178632206;178632205 | chr2:179496934;179496933;179496932 |
| 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 | rs778681205  |
-0.306 | 1.0 | N | 0.851 | 0.415 | 0.519187973786 | gnomAD-2.1.1 | 4.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.41E-05 | None | 0 | 0 | 0 |
| T/I | rs778681205 |
-0.306 | 1.0 | N | 0.851 | 0.415 | 0.519187973786 | gnomAD-4.0.0 | 5.49271E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.31032E-06 | 1.17242E-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 | 0.1654 | likely_benign | 0.1313 | benign | -0.854 | Destabilizing | 0.999 | D | 0.563 | neutral | N | 0.498911994 | None | None | N |
| T/C | 0.7568 | likely_pathogenic | 0.7269 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| T/D | 0.6862 | likely_pathogenic | 0.615 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| T/E | 0.5592 | ambiguous | 0.4326 | ambiguous | -0.43 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| T/F | 0.6348 | likely_pathogenic | 0.5511 | ambiguous | -0.976 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| T/G | 0.5049 | ambiguous | 0.4413 | ambiguous | -1.106 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| T/H | 0.5644 | likely_pathogenic | 0.5227 | ambiguous | -1.427 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| T/I | 0.4878 | ambiguous | 0.363 | ambiguous | -0.274 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.503721528 | None | None | N |
| T/K | 0.4051 | ambiguous | 0.3348 | benign | -0.751 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| T/L | 0.2865 | likely_benign | 0.2345 | benign | -0.274 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/M | 0.1893 | likely_benign | 0.1584 | benign | 0.101 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| T/N | 0.2725 | likely_benign | 0.2345 | benign | -0.722 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.538208368 | None | None | N |
| T/P | 0.3197 | likely_benign | 0.3159 | benign | -0.436 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.605973943 | None | None | N |
| T/Q | 0.4772 | ambiguous | 0.3998 | ambiguous | -0.934 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| T/R | 0.3144 | likely_benign | 0.274 | benign | -0.499 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| T/S | 0.2224 | likely_benign | 0.1837 | benign | -0.994 | Destabilizing | 0.999 | D | 0.539 | neutral | N | 0.50271823 | None | None | N |
| T/V | 0.395 | ambiguous | 0.3101 | benign | -0.436 | Destabilizing | 0.999 | D | 0.583 | neutral | None | None | None | None | N |
| T/W | 0.9211 | likely_pathogenic | 0.9062 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| T/Y | 0.66 | likely_pathogenic | 0.604 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.845 | 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.