Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9944 | 30055;30056;30057 | chr2:178704642;178704641;178704640 | chr2:179569369;179569368;179569367 |
| N2AB | 9627 | 29104;29105;29106 | chr2:178704642;178704641;178704640 | chr2:179569369;179569368;179569367 |
| N2A | 8700 | 26323;26324;26325 | chr2:178704642;178704641;178704640 | chr2:179569369;179569368;179569367 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/N | rs766917273  |
-0.11 | 0.026 | None | 0.152 | 0.066 | 0.148003135375 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| S/N | rs766917273 |
-0.11 | 0.026 | None | 0.152 | 0.066 | 0.148003135375 | gnomAD-4.0.0 | 1.36974E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.3238E-05 | 0 |
| S/T | rs766917273 |
-0.113 | 0.896 | None | 0.471 | 0.214 | 0.211220785272 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.02E-06 | 0 |
| S/T | rs766917273 |
-0.113 | 0.896 | None | 0.471 | 0.214 | 0.211220785272 | gnomAD-4.0.0 | 6.8487E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00108E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2124 | likely_benign | 0.2466 | benign | -0.365 | Destabilizing | 0.702 | D | 0.436 | neutral | None | None | None | None | N |
| S/C | 0.2059 | likely_benign | 0.2336 | benign | -0.34 | Destabilizing | 0.999 | D | 0.421 | neutral | None | None | None | None | N |
| S/D | 0.5891 | likely_pathogenic | 0.592 | pathogenic | 0.383 | Stabilizing | 0.851 | D | 0.399 | neutral | None | None | None | None | N |
| S/E | 0.8787 | likely_pathogenic | 0.9051 | pathogenic | 0.327 | Stabilizing | 0.919 | D | 0.421 | neutral | None | None | None | None | N |
| S/F | 0.7719 | likely_pathogenic | 0.8773 | pathogenic | -0.856 | Destabilizing | 0.996 | D | 0.5 | neutral | None | None | None | None | N |
| S/G | 0.1155 | likely_benign | 0.1162 | benign | -0.518 | Destabilizing | 0.011 | N | 0.135 | neutral | None | None | None | None | N |
| S/H | 0.6927 | likely_pathogenic | 0.7503 | pathogenic | -0.92 | Destabilizing | 0.988 | D | 0.371 | neutral | None | None | None | None | N |
| S/I | 0.6922 | likely_pathogenic | 0.8013 | pathogenic | -0.087 | Destabilizing | 0.984 | D | 0.497 | neutral | None | None | None | None | N |
| S/K | 0.9204 | likely_pathogenic | 0.9515 | pathogenic | -0.417 | Destabilizing | 0.919 | D | 0.423 | neutral | None | None | None | None | N |
| S/L | 0.3507 | ambiguous | 0.4796 | ambiguous | -0.087 | Destabilizing | 0.988 | D | 0.469 | neutral | None | None | None | None | N |
| S/M | 0.5651 | likely_pathogenic | 0.6639 | pathogenic | -0.091 | Destabilizing | 0.999 | D | 0.385 | neutral | None | None | None | None | N |
| S/N | 0.2071 | likely_benign | 0.2097 | benign | -0.25 | Destabilizing | 0.026 | N | 0.152 | neutral | None | None | None | None | N |
| S/P | 0.9622 | likely_pathogenic | 0.9798 | pathogenic | -0.148 | Destabilizing | 0.996 | D | 0.367 | neutral | None | None | None | None | N |
| S/Q | 0.8602 | likely_pathogenic | 0.8986 | pathogenic | -0.379 | Destabilizing | 0.988 | D | 0.399 | neutral | None | None | None | None | N |
| S/R | 0.8875 | likely_pathogenic | 0.9357 | pathogenic | -0.28 | Destabilizing | 0.968 | D | 0.373 | neutral | None | None | None | None | N |
| S/T | 0.1129 | likely_benign | 0.1167 | benign | -0.317 | Destabilizing | 0.896 | D | 0.471 | neutral | None | None | None | None | N |
| S/V | 0.6193 | likely_pathogenic | 0.7175 | pathogenic | -0.148 | Destabilizing | 0.988 | D | 0.455 | neutral | None | None | None | None | N |
| S/W | 0.8549 | likely_pathogenic | 0.9213 | pathogenic | -0.904 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| S/Y | 0.6928 | likely_pathogenic | 0.8121 | pathogenic | -0.599 | Destabilizing | 0.996 | D | 0.493 | 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.