Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5506 | 16741;16742;16743 | chr2:178732545;178732544;178732543 | chr2:179597272;179597271;179597270 |
| N2AB | 5189 | 15790;15791;15792 | chr2:178732545;178732544;178732543 | chr2:179597272;179597271;179597270 |
| N2A | 4262 | 13009;13010;13011 | chr2:178732545;178732544;178732543 | chr2:179597272;179597271;179597270 |
| 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/A | None | None | 0.863 | N | 0.53 | 0.254 | 0.294561560033 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs201125295  |
-0.871 | 0.964 | D | 0.637 | 0.396 | None | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.45E-05 | 0 |
| S/F | rs201125295 |
-0.871 | 0.964 | D | 0.637 | 0.396 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| S/F | rs201125295 |
-0.871 | 0.964 | D | 0.637 | 0.396 | None | gnomAD-4.0.0 | 4.89621E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.52684E-05 | 0 | 3.20266E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.09 | likely_benign | 0.0928 | benign | -0.774 | Destabilizing | 0.863 | D | 0.53 | neutral | N | 0.511857553 | None | None | N |
| S/C | 0.1196 | likely_benign | 0.126 | benign | -0.812 | Destabilizing | 0.999 | D | 0.648 | neutral | N | 0.507866097 | None | None | N |
| S/D | 0.4139 | ambiguous | 0.4722 | ambiguous | -1.566 | Destabilizing | 0.998 | D | 0.566 | neutral | None | None | None | None | N |
| S/E | 0.4286 | ambiguous | 0.4715 | ambiguous | -1.446 | Destabilizing | 0.976 | D | 0.555 | neutral | None | None | None | None | N |
| S/F | 0.1017 | likely_benign | 0.1081 | benign | -0.792 | Destabilizing | 0.964 | D | 0.637 | neutral | D | 0.528712517 | None | None | N |
| S/G | 0.142 | likely_benign | 0.1574 | benign | -1.107 | Destabilizing | 0.976 | D | 0.526 | neutral | None | None | None | None | N |
| S/H | 0.2346 | likely_benign | 0.2398 | benign | -1.55 | Destabilizing | 0.986 | D | 0.649 | neutral | None | None | None | None | N |
| S/I | 0.1176 | likely_benign | 0.1322 | benign | 0.039 | Stabilizing | 0.986 | D | 0.663 | neutral | None | None | None | None | N |
| S/K | 0.5294 | ambiguous | 0.5802 | pathogenic | -0.587 | Destabilizing | 0.976 | D | 0.543 | neutral | None | None | None | None | N |
| S/L | 0.0928 | likely_benign | 0.1018 | benign | 0.039 | Stabilizing | 0.91 | D | 0.637 | neutral | None | None | None | None | N |
| S/M | 0.1746 | likely_benign | 0.1906 | benign | 0.137 | Stabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | N |
| S/N | 0.1421 | likely_benign | 0.1678 | benign | -1.123 | Destabilizing | 0.976 | D | 0.525 | neutral | None | None | None | None | N |
| S/P | 0.8686 | likely_pathogenic | 0.9248 | pathogenic | -0.197 | Destabilizing | 0.997 | D | 0.625 | neutral | D | 0.525716863 | None | None | N |
| S/Q | 0.3865 | ambiguous | 0.4116 | ambiguous | -1.088 | Destabilizing | 0.998 | D | 0.617 | neutral | None | None | None | None | N |
| S/R | 0.3989 | ambiguous | 0.4385 | ambiguous | -0.712 | Destabilizing | 0.993 | D | 0.625 | neutral | None | None | None | None | N |
| S/T | 0.0743 | likely_benign | 0.0811 | benign | -0.837 | Destabilizing | 0.969 | D | 0.519 | neutral | N | 0.449515441 | None | None | N |
| S/V | 0.13 | likely_benign | 0.1411 | benign | -0.197 | Destabilizing | 0.986 | D | 0.648 | neutral | None | None | None | None | N |
| S/W | 0.2247 | likely_benign | 0.2418 | benign | -0.971 | Destabilizing | 0.998 | D | 0.755 | deleterious | None | None | None | None | N |
| S/Y | 0.111 | likely_benign | 0.1117 | benign | -0.567 | Destabilizing | 0.1 | N | 0.547 | neutral | D | 0.53471577 | 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.