Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20876 | 62851;62852;62853 | chr2:178589099;178589098;178589097 | chr2:179453826;179453825;179453824 |
| N2AB | 19235 | 57928;57929;57930 | chr2:178589099;178589098;178589097 | chr2:179453826;179453825;179453824 |
| N2A | 18308 | 55147;55148;55149 | chr2:178589099;178589098;178589097 | chr2:179453826;179453825;179453824 |
| N2B | 11811 | 35656;35657;35658 | chr2:178589099;178589098;178589097 | chr2:179453826;179453825;179453824 |
| Novex-1 | 11936 | 36031;36032;36033 | chr2:178589099;178589098;178589097 | chr2:179453826;179453825;179453824 |
| Novex-2 | 12003 | 36232;36233;36234 | chr2:178589099;178589098;178589097 | chr2:179453826;179453825;179453824 |
| 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/A | None | None | 0.517 | N | 0.437 | 0.268 | 0.511331572721 | gnomAD-4.0.0 | 6.85561E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15953E-05 | 0 |
| V/G | None | None | 0.949 | N | 0.579 | 0.478 | 0.886552986545 | gnomAD-4.0.0 | 6.85561E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15953E-05 | 0 |
| V/M | rs774378099  |
-0.617 | 0.901 | N | 0.495 | 0.302 | 0.463672176093 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/M | rs774378099 |
-0.617 | 0.901 | N | 0.495 | 0.302 | 0.463672176093 | gnomAD-4.0.0 | 1.59848E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02627E-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 | 0.3198 | likely_benign | 0.2992 | benign | -1.127 | Destabilizing | 0.517 | D | 0.437 | neutral | N | 0.507381948 | None | None | N |
| V/C | 0.7158 | likely_pathogenic | 0.7115 | pathogenic | -0.921 | Destabilizing | 0.996 | D | 0.495 | neutral | None | None | None | None | N |
| V/D | 0.7468 | likely_pathogenic | 0.7718 | pathogenic | -1.003 | Destabilizing | 0.987 | D | 0.646 | neutral | None | None | None | None | N |
| V/E | 0.6291 | likely_pathogenic | 0.6398 | pathogenic | -1.072 | Destabilizing | 0.983 | D | 0.57 | neutral | N | 0.502492094 | None | None | N |
| V/F | 0.2623 | likely_benign | 0.2742 | benign | -1.259 | Destabilizing | 0.923 | D | 0.471 | neutral | None | None | None | None | N |
| V/G | 0.4218 | ambiguous | 0.4175 | ambiguous | -1.347 | Destabilizing | 0.949 | D | 0.579 | neutral | N | 0.492656726 | None | None | N |
| V/H | 0.7893 | likely_pathogenic | 0.7983 | pathogenic | -1.007 | Destabilizing | 0.996 | D | 0.648 | neutral | None | None | None | None | N |
| V/I | 0.0685 | likely_benign | 0.0654 | benign | -0.654 | Destabilizing | 0.002 | N | 0.095 | neutral | None | None | None | None | N |
| V/K | 0.6099 | likely_pathogenic | 0.6277 | pathogenic | -0.797 | Destabilizing | 0.961 | D | 0.578 | neutral | None | None | None | None | N |
| V/L | 0.2263 | likely_benign | 0.2274 | benign | -0.654 | Destabilizing | 0.075 | N | 0.197 | neutral | N | 0.494836725 | None | None | N |
| V/M | 0.1674 | likely_benign | 0.1629 | benign | -0.449 | Destabilizing | 0.901 | D | 0.495 | neutral | N | 0.485401797 | None | None | N |
| V/N | 0.5212 | ambiguous | 0.5233 | ambiguous | -0.536 | Destabilizing | 0.987 | D | 0.651 | neutral | None | None | None | None | N |
| V/P | 0.739 | likely_pathogenic | 0.7446 | pathogenic | -0.777 | Destabilizing | 0.987 | D | 0.601 | neutral | None | None | None | None | N |
| V/Q | 0.5831 | likely_pathogenic | 0.5712 | pathogenic | -0.816 | Destabilizing | 0.987 | D | 0.607 | neutral | None | None | None | None | N |
| V/R | 0.5587 | ambiguous | 0.5843 | pathogenic | -0.312 | Destabilizing | 0.987 | D | 0.651 | neutral | None | None | None | None | N |
| V/S | 0.4054 | ambiguous | 0.3969 | ambiguous | -0.993 | Destabilizing | 0.961 | D | 0.532 | neutral | None | None | None | None | N |
| V/T | 0.2501 | likely_benign | 0.2306 | benign | -0.961 | Destabilizing | 0.775 | D | 0.417 | neutral | None | None | None | None | N |
| V/W | 0.8965 | likely_pathogenic | 0.9045 | pathogenic | -1.356 | Destabilizing | 0.996 | D | 0.735 | prob.delet. | None | None | None | None | N |
| V/Y | 0.6668 | likely_pathogenic | 0.6928 | pathogenic | -1.031 | Destabilizing | 0.961 | D | 0.521 | 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.