Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3520 | 10783;10784;10785 | chr2:178757662;178757661;178757660 | chr2:179622389;179622388;179622387 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3474 | 10645;10646;10647 | chr2:178757662;178757661;178757660 | chr2:179622389;179622388;179622387 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | None | None | None | 0.219 | None | 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 |
| G/S | rs375297413  |
None | None | None | None | 0.194 | None | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5153 | ambiguous | None | None | -0.862 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/C | 0.7574 | likely_pathogenic | None | None | -1.307 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/D | 0.6134 | likely_pathogenic | None | None | -1.585 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/E | 0.6566 | likely_pathogenic | None | None | -1.534 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/F | 0.9727 | likely_pathogenic | None | None | -0.988 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/H | 0.8753 | likely_pathogenic | None | None | -1.624 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/I | 0.9548 | likely_pathogenic | None | None | -0.129 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/K | 0.8718 | likely_pathogenic | None | None | -1.235 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/L | 0.9375 | likely_pathogenic | None | None | -0.129 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/M | 0.9474 | likely_pathogenic | None | None | -0.317 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/N | 0.6722 | likely_pathogenic | None | None | -1.191 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/P | 0.9926 | likely_pathogenic | None | None | -0.33 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Q | 0.7381 | likely_pathogenic | None | None | -1.216 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/R | 0.7402 | likely_pathogenic | None | None | -1.148 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/S | 0.3098 | likely_benign | None | None | -1.57 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/T | 0.793 | likely_pathogenic | None | None | -1.414 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/V | 0.9035 | likely_pathogenic | None | None | -0.33 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/W | 0.9317 | likely_pathogenic | None | None | -1.504 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Y | 0.9222 | likely_pathogenic | None | None | -1.005 | Destabilizing | None | None | None | None | 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.