Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3734 | 11425;11426;11427 | chr2:178756276;178756275;178756274 | chr2:179621003;179621002;179621001 |
| 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 | 3563 | 10912;10913;10914 | chr2:178756276;178756275;178756274 | chr2:179621003;179621002;179621001 |
| 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 | rs1488086911  |
None | None | None | None | 0.125 | None | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02389E-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 | 0.2265 | likely_benign | None | None | -2.412 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/C | 0.8148 | likely_pathogenic | None | None | -2.034 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.8976 | likely_pathogenic | None | None | -3.293 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.7913 | likely_pathogenic | None | None | -3.085 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.299 | likely_benign | None | None | -1.341 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.4063 | ambiguous | None | None | -2.897 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/H | 0.911 | likely_pathogenic | None | None | -2.531 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.0931 | likely_benign | None | None | -1.046 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/K | 0.8422 | likely_pathogenic | None | None | -2.042 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.2683 | likely_benign | None | None | -1.046 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/M | 0.2724 | likely_benign | None | None | -1.263 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.8194 | likely_pathogenic | None | None | -2.394 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.938 | likely_pathogenic | None | None | -1.48 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.7674 | likely_pathogenic | None | None | -2.251 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.7399 | likely_pathogenic | None | None | -1.783 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.4549 | ambiguous | None | None | -2.914 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.404 | ambiguous | None | None | -2.587 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.934 | likely_pathogenic | None | None | -1.852 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.8116 | likely_pathogenic | None | None | -1.575 | 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.