Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34128 | 102607;102608;102609 | chr2:178534233;178534232;178534231 | chr2:179398960;179398959;179398958 |
| N2AB | 32487 | 97684;97685;97686 | chr2:178534233;178534232;178534231 | chr2:179398960;179398959;179398958 |
| N2A | 31560 | 94903;94904;94905 | chr2:178534233;178534232;178534231 | chr2:179398960;179398959;179398958 |
| N2B | 25063 | 75412;75413;75414 | chr2:178534233;178534232;178534231 | chr2:179398960;179398959;179398958 |
| Novex-1 | 25188 | 75787;75788;75789 | chr2:178534233;178534232;178534231 | chr2:179398960;179398959;179398958 |
| Novex-2 | 25255 | 75988;75989;75990 | chr2:178534233;178534232;178534231 | chr2:179398960;179398959;179398958 |
| 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: 316
- Q(SASA): 0.0741
- 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/G | None | None | None | N | None | 0.545 | 0.774457412566 | gnomAD-4.0.0 | 2.05247E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69825E-06 | 0 | 0 |
| V/L | rs753871187  |
-0.843 | None | N | None | 0.22 | 0.56593804104 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.3071E-04 | None | 0 | 0 | 0 |
| V/L | rs753871187 |
-0.843 | None | N | None | 0.22 | 0.56593804104 | gnomAD-4.0.0 | 1.43188E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.28944E-04 | 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 | 0.6857 | likely_pathogenic | 0.6845 | pathogenic | -2.117 | Highly Destabilizing | None | None | None | None | N | 0.458038924 | None | None | N |
| V/C | 0.939 | likely_pathogenic | 0.938 | pathogenic | -1.698 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9575 | likely_pathogenic | 0.9378 | pathogenic | -2.949 | Highly Destabilizing | None | None | None | None | N | 0.45942579 | None | None | N |
| V/E | 0.9069 | likely_pathogenic | 0.8637 | pathogenic | -2.72 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.7078 | likely_pathogenic | 0.7128 | pathogenic | -1.21 | Destabilizing | None | None | None | None | N | 0.459079074 | None | None | N |
| V/G | 0.663 | likely_pathogenic | 0.6088 | pathogenic | -2.66 | Highly Destabilizing | None | None | None | None | N | 0.459252432 | None | None | N |
| V/H | 0.9796 | likely_pathogenic | 0.9739 | pathogenic | -2.509 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1647 | likely_benign | 0.1762 | benign | -0.591 | Destabilizing | None | None | None | None | N | 0.457172132 | None | None | N |
| V/K | 0.9223 | likely_pathogenic | 0.8848 | pathogenic | -1.833 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.6459 | likely_pathogenic | 0.6699 | pathogenic | -0.591 | Destabilizing | None | None | None | None | N | 0.456825415 | None | None | N |
| V/M | 0.5882 | likely_pathogenic | 0.5928 | pathogenic | -0.712 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.8996 | likely_pathogenic | 0.8622 | pathogenic | -2.203 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9465 | likely_pathogenic | 0.9378 | pathogenic | -1.074 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.9171 | likely_pathogenic | 0.8962 | pathogenic | -2.015 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.9017 | likely_pathogenic | 0.8536 | pathogenic | -1.688 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.8262 | likely_pathogenic | 0.7921 | pathogenic | -2.772 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.7123 | likely_pathogenic | 0.676 | pathogenic | -2.404 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9897 | likely_pathogenic | 0.9884 | pathogenic | -1.813 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9432 | likely_pathogenic | 0.9319 | pathogenic | -1.426 | 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.