Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1502 | 4729;4730;4731 | chr2:178777561;178777560;178777559 | chr2:179642288;179642287;179642286 |
| N2AB | 1502 | 4729;4730;4731 | chr2:178777561;178777560;178777559 | chr2:179642288;179642287;179642286 |
| N2A | 1502 | 4729;4730;4731 | chr2:178777561;178777560;178777559 | chr2:179642288;179642287;179642286 |
| N2B | 1456 | 4591;4592;4593 | chr2:178777561;178777560;178777559 | chr2:179642288;179642287;179642286 |
| Novex-1 | 1456 | 4591;4592;4593 | chr2:178777561;178777560;178777559 | chr2:179642288;179642287;179642286 |
| Novex-2 | 1456 | 4591;4592;4593 | chr2:178777561;178777560;178777559 | chr2:179642288;179642287;179642286 |
| Novex-3 | 1502 | 4729;4730;4731 | chr2:178777561;178777560;178777559 | chr2:179642288;179642287;179642286 |
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 | None | None | 0.999 | N | 0.702 | 0.582 | 0.534093007224 | gnomAD-4.0.0 | 1.36835E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79873E-06 | 0 | 0 |
| T/N | rs2092362672  |
None | 0.999 | N | 0.689 | 0.391 | 0.463243292966 | gnomAD-4.0.0 | 1.36835E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79873E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1493 | likely_benign | 0.1604 | benign | -0.794 | Destabilizing | 0.981 | D | 0.445 | neutral | N | 0.508419084 | None | None | N |
| T/C | 0.6178 | likely_pathogenic | 0.6281 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| T/D | 0.6227 | likely_pathogenic | 0.6455 | pathogenic | -0.435 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| T/E | 0.4995 | ambiguous | 0.5325 | ambiguous | -0.409 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| T/F | 0.4961 | ambiguous | 0.5382 | ambiguous | -0.699 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| T/G | 0.4136 | ambiguous | 0.4516 | ambiguous | -1.091 | Destabilizing | 0.997 | D | 0.6 | neutral | None | None | None | None | N |
| T/H | 0.3182 | likely_benign | 0.3237 | benign | -1.376 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| T/I | 0.4494 | ambiguous | 0.4838 | ambiguous | -0.085 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | N | 0.512245263 | None | None | N |
| T/K | 0.2805 | likely_benign | 0.2892 | benign | -0.892 | Destabilizing | 0.999 | D | 0.674 | neutral | None | None | None | None | N |
| T/L | 0.187 | likely_benign | 0.2003 | benign | -0.085 | Destabilizing | 0.998 | D | 0.613 | neutral | None | None | None | None | N |
| T/M | 0.1504 | likely_benign | 0.1627 | benign | 0.192 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| T/N | 0.1952 | likely_benign | 0.201 | benign | -0.869 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | N | 0.489233319 | None | None | N |
| T/P | 0.5095 | ambiguous | 0.5495 | ambiguous | -0.289 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | N | 0.513030701 | None | None | N |
| T/Q | 0.2855 | likely_benign | 0.2904 | benign | -0.955 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/R | 0.2012 | likely_benign | 0.2051 | benign | -0.709 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/S | 0.1366 | likely_benign | 0.1475 | benign | -1.102 | Destabilizing | 0.905 | D | 0.348 | neutral | N | 0.489060695 | None | None | N |
| T/V | 0.3648 | ambiguous | 0.3977 | ambiguous | -0.289 | Destabilizing | 0.998 | D | 0.569 | neutral | None | None | None | None | N |
| T/W | 0.7835 | likely_pathogenic | 0.8118 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| T/Y | 0.5112 | ambiguous | 0.5401 | ambiguous | -0.472 | Destabilizing | 1.0 | D | 0.686 | prob.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.