Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3725 | 11398;11399;11400 | chr2:178756303;178756302;178756301 | chr2:179621030;179621029;179621028 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3554 | 10885;10886;10887 | chr2:178756303;178756302;178756301 | chr2:179621030;179621029;179621028 |
| 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/I | rs1398496347  |
0.136 | None | None | None | 0.072 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/I | rs1398496347 |
0.136 | None | None | None | 0.072 | None | gnomAD-4.0.0 | 7.52639E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89452E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0637 | likely_benign | None | None | -0.493 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/C | 0.5431 | ambiguous | None | None | -0.471 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/D | 0.1215 | likely_benign | None | None | -0.571 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/E | 0.1101 | likely_benign | None | None | -0.678 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/F | 0.1179 | likely_benign | None | None | -0.718 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/G | 0.1059 | likely_benign | None | None | -0.635 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/H | 0.3047 | likely_benign | None | None | -0.215 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/I | 0.0866 | likely_benign | None | None | -0.261 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/K | 0.1514 | likely_benign | None | None | -0.504 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/L | 0.1452 | likely_benign | None | None | -0.261 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/M | 0.1246 | likely_benign | None | None | -0.31 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/N | 0.137 | likely_benign | None | None | -0.176 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/P | 0.2159 | likely_benign | None | None | -0.304 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Q | 0.165 | likely_benign | None | None | -0.431 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/R | 0.1297 | likely_benign | None | None | 0.044 | Stabilizing | None | None | None | None | None | None | None | None | I |
| V/S | 0.0919 | likely_benign | None | None | -0.482 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/T | 0.0962 | likely_benign | None | None | -0.494 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/W | 0.5491 | ambiguous | None | None | -0.819 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Y | 0.3615 | ambiguous | None | None | -0.523 | Destabilizing | None | None | None | None | None | None | None | None | I |
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.