Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16437 | 49534;49535;49536 | chr2:178614088;178614087;178614086 | chr2:179478815;179478814;179478813 |
| N2AB | 14796 | 44611;44612;44613 | chr2:178614088;178614087;178614086 | chr2:179478815;179478814;179478813 |
| N2A | 13869 | 41830;41831;41832 | chr2:178614088;178614087;178614086 | chr2:179478815;179478814;179478813 |
| N2B | 7372 | 22339;22340;22341 | chr2:178614088;178614087;178614086 | chr2:179478815;179478814;179478813 |
| Novex-1 | 7497 | 22714;22715;22716 | chr2:178614088;178614087;178614086 | chr2:179478815;179478814;179478813 |
| Novex-2 | 7564 | 22915;22916;22917 | chr2:178614088;178614087;178614086 | chr2:179478815;179478814;179478813 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | rs767768313  |
-2.163 | 0.93 | N | 0.721 | 0.238 | None | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.93E-05 | 1.41203E-04 |
| V/D | rs767768313 |
-2.163 | 0.93 | N | 0.721 | 0.238 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 4.78469E-04 |
| V/D | rs767768313 |
-2.163 | 0.93 | N | 0.721 | 0.238 | None | gnomAD-4.0.0 | 3.03893E-05 | None | None | None | None | N | None | 1.33651E-05 | 0 | None | 0 | 0 | None | 1.56333E-05 | 0 | 3.9008E-05 | 0 | 1.60313E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1382 | likely_benign | 0.1331 | benign | -1.712 | Destabilizing | 0.001 | N | 0.199 | neutral | N | 0.325673044 | None | None | N |
| V/C | 0.6172 | likely_pathogenic | 0.6089 | pathogenic | -1.046 | Destabilizing | 0.946 | D | 0.569 | neutral | None | None | None | None | N |
| V/D | 0.6948 | likely_pathogenic | 0.6172 | pathogenic | -1.919 | Destabilizing | 0.93 | D | 0.721 | deleterious | N | 0.499794752 | None | None | N |
| V/E | 0.5387 | ambiguous | 0.4661 | ambiguous | -1.796 | Destabilizing | 0.712 | D | 0.595 | neutral | None | None | None | None | N |
| V/F | 0.3078 | likely_benign | 0.2732 | benign | -1.055 | Destabilizing | 0.93 | D | 0.619 | neutral | N | 0.499982068 | None | None | N |
| V/G | 0.2775 | likely_benign | 0.2482 | benign | -2.152 | Highly Destabilizing | 0.278 | N | 0.591 | neutral | N | 0.438815567 | None | None | N |
| V/H | 0.7694 | likely_pathogenic | 0.712 | pathogenic | -1.824 | Destabilizing | 0.995 | D | 0.777 | deleterious | None | None | None | None | N |
| V/I | 0.0815 | likely_benign | 0.0863 | benign | -0.538 | Destabilizing | 0.435 | N | 0.569 | neutral | N | 0.470048238 | None | None | N |
| V/K | 0.6435 | likely_pathogenic | 0.5521 | ambiguous | -1.504 | Destabilizing | 0.712 | D | 0.591 | neutral | None | None | None | None | N |
| V/L | 0.2204 | likely_benign | 0.2211 | benign | -0.538 | Destabilizing | 0.435 | N | 0.404 | neutral | N | 0.360304592 | None | None | N |
| V/M | 0.1693 | likely_benign | 0.1664 | benign | -0.411 | Destabilizing | 0.982 | D | 0.553 | neutral | None | None | None | None | N |
| V/N | 0.4259 | ambiguous | 0.3725 | ambiguous | -1.522 | Destabilizing | 0.946 | D | 0.741 | deleterious | None | None | None | None | N |
| V/P | 0.9492 | likely_pathogenic | 0.9427 | pathogenic | -0.898 | Destabilizing | 0.946 | D | 0.588 | neutral | None | None | None | None | N |
| V/Q | 0.4503 | ambiguous | 0.3909 | ambiguous | -1.515 | Destabilizing | 0.946 | D | 0.612 | neutral | None | None | None | None | N |
| V/R | 0.5963 | likely_pathogenic | 0.4986 | ambiguous | -1.161 | Destabilizing | 0.946 | D | 0.721 | deleterious | None | None | None | None | N |
| V/S | 0.2111 | likely_benign | 0.1889 | benign | -2.086 | Highly Destabilizing | 0.338 | N | 0.549 | neutral | None | None | None | None | N |
| V/T | 0.1608 | likely_benign | 0.1545 | benign | -1.843 | Destabilizing | 0.505 | D | 0.496 | neutral | None | None | None | None | N |
| V/W | 0.9442 | likely_pathogenic | 0.9311 | pathogenic | -1.481 | Destabilizing | 0.995 | D | 0.808 | deleterious | None | None | None | None | N |
| V/Y | 0.7587 | likely_pathogenic | 0.6966 | pathogenic | -1.102 | Destabilizing | 0.982 | D | 0.615 | neutral | 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.