Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3749 | 11470;11471;11472 | chr2:178756231;178756230;178756229 | chr2:179620958;179620957;179620956 |
| 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 | 3578 | 10957;10958;10959 | chr2:178756231;178756230;178756229 | chr2:179620958;179620957;179620956 |
| 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 | None | None | None | None | None | 0.332 | None | gnomAD-4.0.0 | 1.37748E-06 | None | None | None | None | I | None | 3.00625E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.66683E-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 | 0.4626 | ambiguous | None | None | -1.458 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/C | 0.8977 | likely_pathogenic | None | None | -1.076 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/D | 0.8971 | likely_pathogenic | None | None | -1.072 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/E | 0.7712 | likely_pathogenic | None | None | -1.075 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/F | 0.4237 | ambiguous | None | None | -1.148 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/G | 0.6037 | likely_pathogenic | None | None | -1.772 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/H | 0.945 | likely_pathogenic | None | None | -1.288 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/I | 0.0978 | likely_benign | None | None | -0.702 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/K | 0.7768 | likely_pathogenic | None | None | -1.135 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/L | 0.4071 | ambiguous | None | None | -0.702 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/M | 0.327 | likely_benign | None | None | -0.59 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/N | 0.8466 | likely_pathogenic | None | None | -0.928 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/P | 0.9074 | likely_pathogenic | None | None | -0.919 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Q | 0.8055 | likely_pathogenic | None | None | -1.099 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/R | 0.6955 | likely_pathogenic | None | None | -0.657 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/S | 0.7024 | likely_pathogenic | None | None | -1.501 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/T | 0.5109 | ambiguous | None | None | -1.391 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/W | 0.9494 | likely_pathogenic | None | None | -1.3 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Y | 0.8859 | likely_pathogenic | None | None | -1.006 | 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.