Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3493 | 10702;10703;10704 | chr2:178757743;178757742;178757741 | chr2:179622470;179622469;179622468 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3447 | 10564;10565;10566 | chr2:178757743;178757742;178757741 | chr2:179622470;179622469;179622468 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | None | None | None | None | None | 0.16 | None | gnomAD-4.0.0 | 1.59108E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85802E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3534 | ambiguous | None | None | -0.361 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/C | 0.8063 | likely_pathogenic | None | None | -0.373 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/D | 0.6987 | likely_pathogenic | None | None | -0.092 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/E | 0.2321 | likely_benign | None | None | 0.015 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/F | 0.7873 | likely_pathogenic | None | None | -0.087 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/G | 0.6714 | likely_pathogenic | None | None | -0.701 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/H | 0.4387 | ambiguous | None | None | -1.015 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/I | 0.3149 | likely_benign | None | None | 0.507 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/L | 0.3432 | ambiguous | None | None | 0.507 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/M | 0.2652 | likely_benign | None | None | 0.134 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/N | 0.5076 | ambiguous | None | None | -0.277 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/P | 0.5787 | likely_pathogenic | None | None | 0.247 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/Q | 0.1768 | likely_benign | None | None | -0.256 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/R | 0.1065 | likely_benign | None | None | -0.513 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/S | 0.4701 | ambiguous | None | None | -0.781 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/T | 0.2171 | likely_benign | None | None | -0.476 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/V | 0.3147 | likely_benign | None | None | 0.247 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/W | 0.8827 | likely_pathogenic | None | None | -0.075 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/Y | 0.6692 | likely_pathogenic | None | None | 0.212 | 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.