Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33992 | 102199;102200;102201 | chr2:178534641;178534640;178534639 | chr2:179399368;179399367;179399366 |
| N2AB | 32351 | 97276;97277;97278 | chr2:178534641;178534640;178534639 | chr2:179399368;179399367;179399366 |
| N2A | 31424 | 94495;94496;94497 | chr2:178534641;178534640;178534639 | chr2:179399368;179399367;179399366 |
| N2B | 24927 | 75004;75005;75006 | chr2:178534641;178534640;178534639 | chr2:179399368;179399367;179399366 |
| Novex-1 | 25052 | 75379;75380;75381 | chr2:178534641;178534640;178534639 | chr2:179399368;179399367;179399366 |
| Novex-2 | 25119 | 75580;75581;75582 | chr2:178534641;178534640;178534639 | chr2:179399368;179399367;179399366 |
| 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: 180
- Q(SASA): 0.1005
- 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 | N | None | 0.456 | 0.744443020053 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/I | None | None | None | N | None | 0.112 | 0.311079019809 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6693 | likely_pathogenic | 0.6602 | pathogenic | -1.984 | Destabilizing | None | None | None | None | N | 0.435718558 | None | None | N |
| V/C | 0.9539 | likely_pathogenic | 0.9493 | pathogenic | -1.644 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9661 | likely_pathogenic | 0.9569 | pathogenic | -2.571 | Highly Destabilizing | None | None | None | None | N | 0.479760124 | None | None | N |
| V/E | 0.9218 | likely_pathogenic | 0.9013 | pathogenic | -2.283 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.6714 | likely_pathogenic | 0.657 | pathogenic | -1.105 | Destabilizing | None | None | None | None | N | 0.486011306 | None | None | N |
| V/G | 0.8376 | likely_pathogenic | 0.8192 | pathogenic | -2.595 | Highly Destabilizing | None | None | None | None | N | 0.495113579 | None | None | N |
| V/H | 0.9797 | likely_pathogenic | 0.976 | pathogenic | -2.444 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.131 | likely_benign | 0.1452 | benign | -0.247 | Destabilizing | None | None | None | None | N | 0.45897942 | None | None | N |
| V/K | 0.9452 | likely_pathogenic | 0.9293 | pathogenic | -1.598 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.577 | likely_pathogenic | 0.6189 | pathogenic | -0.247 | Destabilizing | None | None | None | None | N | 0.471580571 | None | None | N |
| V/M | 0.6127 | likely_pathogenic | 0.6454 | pathogenic | -0.495 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.9411 | likely_pathogenic | 0.9345 | pathogenic | -2.124 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9263 | likely_pathogenic | 0.9184 | pathogenic | -0.8 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.9296 | likely_pathogenic | 0.9219 | pathogenic | -1.823 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.914 | likely_pathogenic | 0.8883 | pathogenic | -1.661 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.8341 | likely_pathogenic | 0.8168 | pathogenic | -2.774 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.6998 | likely_pathogenic | 0.6888 | pathogenic | -2.314 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9917 | likely_pathogenic | 0.99 | pathogenic | -1.644 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9585 | likely_pathogenic | 0.9466 | pathogenic | -1.227 | 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.