Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17238 | 51937;51938;51939 | chr2:178609711;178609710;178609709 | chr2:179474438;179474437;179474436 |
| N2AB | 15597 | 47014;47015;47016 | chr2:178609711;178609710;178609709 | chr2:179474438;179474437;179474436 |
| N2A | 14670 | 44233;44234;44235 | chr2:178609711;178609710;178609709 | chr2:179474438;179474437;179474436 |
| N2B | 8173 | 24742;24743;24744 | chr2:178609711;178609710;178609709 | chr2:179474438;179474437;179474436 |
| Novex-1 | 8298 | 25117;25118;25119 | chr2:178609711;178609710;178609709 | chr2:179474438;179474437;179474436 |
| Novex-2 | 8365 | 25318;25319;25320 | chr2:178609711;178609710;178609709 | chr2:179474438;179474437;179474436 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs773035917  |
-0.254 | 0.996 | N | 0.771 | 0.285 | 0.185906805712 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.11E-06 | 0 |
| P/A | rs773035917 |
-0.254 | 0.996 | N | 0.771 | 0.285 | 0.185906805712 | gnomAD-4.0.0 | 3.44476E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.49895E-04 | 9.04801E-07 | 1.17827E-05 | 1.66923E-05 |
| P/S | rs773035917 |
-0.276 | 1.0 | N | 0.833 | 0.28 | 0.202086224978 | gnomAD-2.1.1 | 6.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.08E-05 | 1.27738E-04 | 0 |
| P/S | rs773035917 |
-0.276 | 1.0 | N | 0.833 | 0.28 | 0.202086224978 | gnomAD-3.1.2 | 1.11892E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88351E-04 | 0 | None | 1.88573E-04 | 0 | 2.06101E-04 | 0 | 0 |
| P/S | rs773035917 |
-0.276 | 1.0 | N | 0.833 | 0.28 | 0.202086224978 | gnomAD-4.0.0 | 5.11409E-05 | None | None | None | None | N | None | 0 | 0 | None | 3.44021E-05 | 0 | None | 1.41376E-04 | 0 | 5.96687E-05 | 0 | 3.22601E-05 |
| P/T | None | -0.314 | 0.999 | N | 0.8 | 0.287 | 0.310458034454 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0819 | likely_benign | 0.0805 | benign | -0.465 | Destabilizing | 0.996 | D | 0.771 | deleterious | N | 0.465892324 | None | None | N |
| P/C | 0.6085 | likely_pathogenic | 0.5809 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/D | 0.5282 | ambiguous | 0.5355 | ambiguous | -0.495 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| P/E | 0.3092 | likely_benign | 0.3239 | benign | -0.618 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| P/F | 0.4581 | ambiguous | 0.4144 | ambiguous | -0.734 | Destabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| P/G | 0.3114 | likely_benign | 0.3101 | benign | -0.584 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/H | 0.2517 | likely_benign | 0.2393 | benign | -0.161 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.465538526 | None | None | N |
| P/I | 0.2297 | likely_benign | 0.2185 | benign | -0.303 | Destabilizing | 0.996 | D | 0.753 | deleterious | None | None | None | None | N |
| P/K | 0.3186 | likely_benign | 0.3107 | benign | -0.478 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/L | 0.104 | likely_benign | 0.1002 | benign | -0.303 | Destabilizing | 0.451 | N | 0.589 | neutral | N | 0.503717206 | None | None | N |
| P/M | 0.2492 | likely_benign | 0.2384 | benign | -0.353 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| P/N | 0.356 | ambiguous | 0.3494 | ambiguous | -0.201 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| P/Q | 0.1633 | likely_benign | 0.1623 | benign | -0.474 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| P/R | 0.2556 | likely_benign | 0.2446 | benign | 0.082 | Stabilizing | 1.0 | D | 0.818 | deleterious | N | 0.483651365 | None | None | N |
| P/S | 0.1272 | likely_benign | 0.1294 | benign | -0.509 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.485304804 | None | None | N |
| P/T | 0.1201 | likely_benign | 0.1165 | benign | -0.537 | Destabilizing | 0.999 | D | 0.8 | deleterious | N | 0.484784729 | None | None | N |
| P/V | 0.1615 | likely_benign | 0.1594 | benign | -0.323 | Destabilizing | 0.996 | D | 0.744 | deleterious | None | None | None | None | N |
| P/W | 0.7542 | likely_pathogenic | 0.71 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| P/Y | 0.4675 | ambiguous | 0.4295 | ambiguous | -0.516 | Destabilizing | 1.0 | D | 0.794 | 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.