Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3514 | 10765;10766;10767 | chr2:178757680;178757679;178757678 | chr2:179622407;179622406;179622405 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3468 | 10627;10628;10629 | chr2:178757680;178757679;178757678 | chr2:179622407;179622406;179622405 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | None | None | None | None | None | 0.198 | None | gnomAD-4.0.0 | 2.05257E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7989E-06 | 1.15934E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.7106 | likely_pathogenic | None | None | 0.126 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/C | 0.3878 | ambiguous | None | None | 0.555 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/D | 0.5906 | likely_pathogenic | None | None | -0.202 | Destabilizing | None | None | None | None | None | None | None | None | I |
| H/E | 0.711 | likely_pathogenic | None | None | -0.157 | Destabilizing | None | None | None | None | None | None | None | None | I |
| H/F | 0.6378 | likely_pathogenic | None | None | 1.009 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/G | 0.77 | likely_pathogenic | None | None | -0.178 | Destabilizing | None | None | None | None | None | None | None | None | I |
| H/I | 0.6603 | likely_pathogenic | None | None | 0.918 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/K | 0.6212 | likely_pathogenic | None | None | 0.032 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/L | 0.3076 | likely_benign | None | None | 0.918 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/M | 0.852 | likely_pathogenic | None | None | 0.617 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/N | 0.2743 | likely_benign | None | None | -0.086 | Destabilizing | None | None | None | None | None | None | None | None | I |
| H/P | 0.7001 | likely_pathogenic | None | None | 0.679 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/Q | 0.4645 | ambiguous | None | None | 0.07 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/R | 0.2572 | likely_benign | None | None | -0.591 | Destabilizing | None | None | None | None | None | None | None | None | I |
| H/S | 0.4941 | ambiguous | None | None | 0.042 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/T | 0.6369 | likely_pathogenic | None | None | 0.191 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/V | 0.6252 | likely_pathogenic | None | None | 0.679 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/W | 0.7032 | likely_pathogenic | None | None | 1.068 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/Y | 0.2097 | likely_benign | None | None | 1.262 | Stabilizing | 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.