Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34105 | 102538;102539;102540 | chr2:178534302;178534301;178534300 | chr2:179399029;179399028;179399027 |
| N2AB | 32464 | 97615;97616;97617 | chr2:178534302;178534301;178534300 | chr2:179399029;179399028;179399027 |
| N2A | 31537 | 94834;94835;94836 | chr2:178534302;178534301;178534300 | chr2:179399029;179399028;179399027 |
| N2B | 25040 | 75343;75344;75345 | chr2:178534302;178534301;178534300 | chr2:179399029;179399028;179399027 |
| Novex-1 | 25165 | 75718;75719;75720 | chr2:178534302;178534301;178534300 | chr2:179399029;179399028;179399027 |
| Novex-2 | 25232 | 75919;75920;75921 | chr2:178534302;178534301;178534300 | chr2:179399029;179399028;179399027 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: V
- RefSeq wild type transcript codon: GTT
- RefSeq wild type template codon: CAA
- Domain: Kinase-1
- Domain position: 293
- Q(SASA): 0.36
- Predicted PPI site: I
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 | rs747672013  |
-0.063 | None | N | None | 0.28 | 0.695266575812 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/D | rs747672013 |
-0.063 | None | N | None | 0.28 | 0.695266575812 | gnomAD-4.0.0 | 1.59135E-06 | None | None | None | None | I | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5187 | ambiguous | 0.3978 | ambiguous | -0.487 | Destabilizing | None | None | None | None | N | 0.446475136 | None | None | I |
| V/C | 0.9379 | likely_pathogenic | 0.9162 | pathogenic | -0.943 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/D | 0.9461 | likely_pathogenic | 0.8697 | pathogenic | -0.37 | Destabilizing | None | None | None | None | N | 0.448382077 | None | None | I |
| V/E | 0.8983 | likely_pathogenic | 0.785 | pathogenic | -0.47 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/F | 0.6791 | likely_pathogenic | 0.521 | ambiguous | -0.678 | Destabilizing | None | None | None | None | N | 0.447688644 | None | None | I |
| V/G | 0.7478 | likely_pathogenic | 0.6234 | pathogenic | -0.592 | Destabilizing | None | None | None | None | N | 0.448208719 | None | None | I |
| V/H | 0.9682 | likely_pathogenic | 0.928 | pathogenic | -0.028 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/I | 0.1464 | likely_benign | 0.1437 | benign | -0.349 | Destabilizing | None | None | None | None | N | 0.42632915 | None | None | I |
| V/K | 0.9305 | likely_pathogenic | 0.8443 | pathogenic | -0.539 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/L | 0.6035 | likely_pathogenic | 0.5263 | ambiguous | -0.349 | Destabilizing | None | None | None | None | N | 0.445088269 | None | None | I |
| V/M | 0.5498 | ambiguous | 0.4653 | ambiguous | -0.619 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/N | 0.881 | likely_pathogenic | 0.7705 | pathogenic | -0.421 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/P | 0.9116 | likely_pathogenic | 0.8294 | pathogenic | -0.364 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Q | 0.9024 | likely_pathogenic | 0.8114 | pathogenic | -0.618 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/R | 0.8992 | likely_pathogenic | 0.7836 | pathogenic | -0.029 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/S | 0.7678 | likely_pathogenic | 0.62 | pathogenic | -0.772 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/T | 0.5756 | likely_pathogenic | 0.4487 | ambiguous | -0.769 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/W | 0.9878 | likely_pathogenic | 0.9724 | pathogenic | -0.729 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Y | 0.9464 | likely_pathogenic | 0.885 | pathogenic | -0.463 | 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.