Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34084 | 102475;102476;102477 | chr2:178534365;178534364;178534363 | chr2:179399092;179399091;179399090 |
| N2AB | 32443 | 97552;97553;97554 | chr2:178534365;178534364;178534363 | chr2:179399092;179399091;179399090 |
| N2A | 31516 | 94771;94772;94773 | chr2:178534365;178534364;178534363 | chr2:179399092;179399091;179399090 |
| N2B | 25019 | 75280;75281;75282 | chr2:178534365;178534364;178534363 | chr2:179399092;179399091;179399090 |
| Novex-1 | 25144 | 75655;75656;75657 | chr2:178534365;178534364;178534363 | chr2:179399092;179399091;179399090 |
| Novex-2 | 25211 | 75856;75857;75858 | chr2:178534365;178534364;178534363 | chr2:179399092;179399091;179399090 |
| 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: 272
- Q(SASA): 0.4179
- 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/A | None | None | None | N | None | 0.098 | 0.361558571881 | gnomAD-4.0.0 | 1.59754E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.97558E-05 | 0 | 0 | 0 | 0 |
| V/I | rs767405843  |
-0.288 | None | N | None | 0.09 | 0.323342291347 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs767405843 |
-0.288 | None | N | None | 0.09 | 0.323342291347 | gnomAD-4.0.0 | 3.195E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85812E-06 | 1.43271E-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 | 0.3458 | ambiguous | 0.4384 | ambiguous | -0.774 | Destabilizing | None | None | None | None | N | 0.409340034 | None | None | N |
| V/C | 0.8462 | likely_pathogenic | 0.905 | pathogenic | -0.741 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.6696 | likely_pathogenic | 0.8382 | pathogenic | -0.526 | Destabilizing | None | None | None | None | N | 0.428619228 | None | None | N |
| V/E | 0.5865 | likely_pathogenic | 0.7517 | pathogenic | -0.624 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.4423 | ambiguous | 0.5217 | ambiguous | -0.845 | Destabilizing | None | None | None | None | N | 0.428619228 | None | None | N |
| V/G | 0.3872 | ambiguous | 0.5199 | ambiguous | -0.944 | Destabilizing | None | None | None | None | N | 0.428619228 | None | None | N |
| V/H | 0.7923 | likely_pathogenic | 0.9136 | pathogenic | -0.444 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1438 | likely_benign | 0.1402 | benign | -0.464 | Destabilizing | None | None | None | None | N | 0.428099153 | None | None | N |
| V/K | 0.6679 | likely_pathogenic | 0.8176 | pathogenic | -0.723 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.47 | ambiguous | 0.4945 | ambiguous | -0.464 | Destabilizing | None | None | None | None | N | 0.426885644 | None | None | N |
| V/M | 0.3678 | ambiguous | 0.3932 | ambiguous | -0.453 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.4542 | ambiguous | 0.6689 | pathogenic | -0.454 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.8365 | likely_pathogenic | 0.9236 | pathogenic | -0.532 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.6156 | likely_pathogenic | 0.7867 | pathogenic | -0.7 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.5827 | likely_pathogenic | 0.7457 | pathogenic | -0.145 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.3652 | ambiguous | 0.5647 | pathogenic | -0.844 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.3025 | likely_benign | 0.4101 | ambiguous | -0.839 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9521 | likely_pathogenic | 0.9728 | pathogenic | -0.914 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.7501 | likely_pathogenic | 0.8483 | pathogenic | -0.645 | 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.