Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2428 | 7507;7508;7509 | chr2:178773886;178773885;178773884 | chr2:179638613;179638612;179638611 |
| N2AB | 2428 | 7507;7508;7509 | chr2:178773886;178773885;178773884 | chr2:179638613;179638612;179638611 |
| N2A | 2428 | 7507;7508;7509 | chr2:178773886;178773885;178773884 | chr2:179638613;179638612;179638611 |
| N2B | 2382 | 7369;7370;7371 | chr2:178773886;178773885;178773884 | chr2:179638613;179638612;179638611 |
| Novex-1 | 2382 | 7369;7370;7371 | chr2:178773886;178773885;178773884 | chr2:179638613;179638612;179638611 |
| Novex-2 | 2382 | 7369;7370;7371 | chr2:178773886;178773885;178773884 | chr2:179638613;179638612;179638611 |
| Novex-3 | 2428 | 7507;7508;7509 | chr2:178773886;178773885;178773884 | chr2:179638613;179638612;179638611 |
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/A | None | None | None | N | 0.203 | 0.081 | 0.165133752707 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/I | rs1372427640  |
0.131 | 0.003 | N | 0.339 | 0.2 | 0.347659731818 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| T/I | rs1372427640 |
0.131 | 0.003 | N | 0.339 | 0.2 | 0.347659731818 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| T/I | rs1372427640 |
0.131 | 0.003 | N | 0.339 | 0.2 | 0.347659731818 | gnomAD-4.0.0 | 3.842E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78391E-06 | 1.34016E-05 | 0 |
| T/N | None | None | 0.001 | N | 0.3 | 0.121 | 0.326345978581 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/N | None | None | 0.001 | N | 0.3 | 0.121 | 0.326345978581 | gnomAD-4.0.0 | 6.57272E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47037E-05 | 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 | 0.0784 | likely_benign | 0.0766 | benign | -1.135 | Destabilizing | None | N | 0.203 | neutral | N | 0.501713739 | None | None | N |
| T/C | 0.2422 | likely_benign | 0.2111 | benign | -0.828 | Destabilizing | 0.667 | D | 0.513 | neutral | None | None | None | None | N |
| T/D | 0.2866 | likely_benign | 0.2658 | benign | -0.674 | Destabilizing | 0.124 | N | 0.564 | neutral | None | None | None | None | N |
| T/E | 0.2257 | likely_benign | 0.2153 | benign | -0.599 | Destabilizing | 0.22 | N | 0.567 | neutral | None | None | None | None | N |
| T/F | 0.1682 | likely_benign | 0.151 | benign | -1.061 | Destabilizing | 0.667 | D | 0.581 | neutral | None | None | None | None | N |
| T/G | 0.2357 | likely_benign | 0.2189 | benign | -1.45 | Destabilizing | 0.055 | N | 0.548 | neutral | None | None | None | None | N |
| T/H | 0.1522 | likely_benign | 0.135 | benign | -1.65 | Destabilizing | 0.667 | D | 0.547 | neutral | None | None | None | None | N |
| T/I | 0.1039 | likely_benign | 0.0935 | benign | -0.357 | Destabilizing | 0.003 | N | 0.339 | neutral | N | 0.472979459 | None | None | N |
| T/K | 0.1698 | likely_benign | 0.1587 | benign | -0.672 | Destabilizing | 0.22 | N | 0.568 | neutral | None | None | None | None | N |
| T/L | 0.0801 | likely_benign | 0.0748 | benign | -0.357 | Destabilizing | 0.055 | N | 0.466 | neutral | None | None | None | None | N |
| T/M | 0.0902 | likely_benign | 0.0839 | benign | -0.124 | Destabilizing | 0.667 | D | 0.523 | neutral | None | None | None | None | N |
| T/N | 0.0901 | likely_benign | 0.0843 | benign | -0.859 | Destabilizing | 0.001 | N | 0.3 | neutral | N | 0.510689262 | None | None | N |
| T/P | 0.5768 | likely_pathogenic | 0.5701 | pathogenic | -0.585 | Destabilizing | 0.001 | N | 0.339 | neutral | N | 0.510450919 | None | None | N |
| T/Q | 0.1686 | likely_benign | 0.1578 | benign | -0.961 | Destabilizing | 0.667 | D | 0.545 | neutral | None | None | None | None | N |
| T/R | 0.1287 | likely_benign | 0.1184 | benign | -0.568 | Destabilizing | 0.497 | N | 0.535 | neutral | None | None | None | None | N |
| T/S | 0.084 | likely_benign | 0.0821 | benign | -1.194 | Destabilizing | 0.003 | N | 0.23 | neutral | N | 0.461622871 | None | None | N |
| T/V | 0.0924 | likely_benign | 0.0849 | benign | -0.585 | Destabilizing | 0.002 | N | 0.207 | neutral | None | None | None | None | N |
| T/W | 0.4629 | ambiguous | 0.4043 | ambiguous | -0.979 | Destabilizing | 0.958 | D | 0.586 | neutral | None | None | None | None | N |
| T/Y | 0.1723 | likely_benign | 0.1517 | benign | -0.711 | Destabilizing | 0.859 | D | 0.568 | 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.