Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3546 | 10861;10862;10863 | chr2:178757584;178757583;178757582 | chr2:179622311;179622310;179622309 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3500 | 10723;10724;10725 | chr2:178757584;178757583;178757582 | chr2:179622311;179622310;179622309 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | None | None | None | 0.574 | None | gnomAD-4.0.0 | 2.75712E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.6214E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7503 | likely_pathogenic | None | None | -0.433 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/C | 0.9357 | likely_pathogenic | None | None | -0.808 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/D | 0.9008 | likely_pathogenic | None | None | -1.17 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/E | 0.9074 | likely_pathogenic | None | None | -1.352 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/F | 0.9873 | likely_pathogenic | None | None | -1.279 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/H | 0.9804 | likely_pathogenic | None | None | -0.697 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/I | 0.9854 | likely_pathogenic | None | None | -0.609 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/K | 0.9696 | likely_pathogenic | None | None | -0.987 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/L | 0.9809 | likely_pathogenic | None | None | -0.609 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/M | 0.9865 | likely_pathogenic | None | None | -0.425 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/N | 0.9501 | likely_pathogenic | None | None | -0.569 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/P | 0.9984 | likely_pathogenic | None | None | -0.519 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Q | 0.9448 | likely_pathogenic | None | None | -0.953 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/R | 0.9142 | likely_pathogenic | None | None | -0.414 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/S | 0.5934 | likely_pathogenic | None | None | -0.615 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/T | 0.9215 | likely_pathogenic | None | None | -0.752 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/V | 0.9611 | likely_pathogenic | None | None | -0.519 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/W | 0.9706 | likely_pathogenic | None | None | -1.403 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Y | 0.9782 | likely_pathogenic | None | None | -1.078 | 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.