Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33986 | 102181;102182;102183 | chr2:178534659;178534658;178534657 | chr2:179399386;179399385;179399384 |
| N2AB | 32345 | 97258;97259;97260 | chr2:178534659;178534658;178534657 | chr2:179399386;179399385;179399384 |
| N2A | 31418 | 94477;94478;94479 | chr2:178534659;178534658;178534657 | chr2:179399386;179399385;179399384 |
| N2B | 24921 | 74986;74987;74988 | chr2:178534659;178534658;178534657 | chr2:179399386;179399385;179399384 |
| Novex-1 | 25046 | 75361;75362;75363 | chr2:178534659;178534658;178534657 | chr2:179399386;179399385;179399384 |
| Novex-2 | 25113 | 75562;75563;75564 | chr2:178534659;178534658;178534657 | chr2:179399386;179399385;179399384 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: V
- RefSeq wild type transcript codon: GTC
- RefSeq wild type template codon: CAG
- Domain: Kinase-1
- Domain position: 174
- Q(SASA): 0.0921
- Predicted PPI site: N
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/D | None | None | None | D | None | 0.719 | 0.889907700409 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| V/I | None | None | None | N | None | 0.113 | 0.478222008075 | gnomAD-4.0.0 | 1.59164E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6624 | likely_pathogenic | 0.6427 | pathogenic | -2.349 | Highly Destabilizing | None | None | None | None | N | 0.493271016 | None | None | N |
| V/C | 0.927 | likely_pathogenic | 0.9178 | pathogenic | -2.077 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9206 | likely_pathogenic | 0.9126 | pathogenic | -3.413 | Highly Destabilizing | None | None | None | None | D | 0.526974765 | None | None | N |
| V/E | 0.8641 | likely_pathogenic | 0.8465 | pathogenic | -3.148 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.6144 | likely_pathogenic | 0.5684 | pathogenic | -1.187 | Destabilizing | None | None | None | None | N | 0.514857991 | None | None | N |
| V/G | 0.6938 | likely_pathogenic | 0.6737 | pathogenic | -2.885 | Highly Destabilizing | None | None | None | None | N | 0.51536497 | None | None | N |
| V/H | 0.9626 | likely_pathogenic | 0.9533 | pathogenic | -2.772 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1048 | likely_benign | 0.0999 | benign | -0.793 | Destabilizing | None | None | None | None | N | 0.449886374 | None | None | N |
| V/K | 0.9093 | likely_pathogenic | 0.8793 | pathogenic | -2.009 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.5663 | likely_pathogenic | 0.5302 | ambiguous | -0.793 | Destabilizing | None | None | None | None | N | 0.478014338 | None | None | N |
| V/M | 0.4823 | ambiguous | 0.4631 | ambiguous | -1.069 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.8344 | likely_pathogenic | 0.8053 | pathogenic | -2.564 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9459 | likely_pathogenic | 0.9406 | pathogenic | -1.294 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.8886 | likely_pathogenic | 0.8722 | pathogenic | -2.266 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.8774 | likely_pathogenic | 0.8421 | pathogenic | -1.963 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.7608 | likely_pathogenic | 0.7365 | pathogenic | -3.048 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.6513 | likely_pathogenic | 0.6273 | pathogenic | -2.654 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9824 | likely_pathogenic | 0.9782 | pathogenic | -1.871 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9045 | likely_pathogenic | 0.8828 | pathogenic | -1.604 | 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.