Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33837 | 101734;101735;101736 | chr2:178535106;178535105;178535104 | chr2:179399833;179399832;179399831 |
| N2AB | 32196 | 96811;96812;96813 | chr2:178535106;178535105;178535104 | chr2:179399833;179399832;179399831 |
| N2A | 31269 | 94030;94031;94032 | chr2:178535106;178535105;178535104 | chr2:179399833;179399832;179399831 |
| N2B | 24772 | 74539;74540;74541 | chr2:178535106;178535105;178535104 | chr2:179399833;179399832;179399831 |
| Novex-1 | 24897 | 74914;74915;74916 | chr2:178535106;178535105;178535104 | chr2:179399833;179399832;179399831 |
| Novex-2 | 24964 | 75115;75116;75117 | chr2:178535106;178535105;178535104 | chr2:179399833;179399832;179399831 |
| 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: 25
- Q(SASA): 0.2062
- 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 | rs1274232213  |
-1.883 | None | N | None | 0.214 | 0.317084106153 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| V/A | rs1274232213 |
-1.883 | None | N | None | 0.214 | 0.317084106153 | gnomAD-4.0.0 | 5.47366E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19534E-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 | 0.5755 | likely_pathogenic | 0.4198 | ambiguous | -1.912 | Destabilizing | None | None | None | None | N | 0.514603417 | None | None | N |
| V/C | 0.9025 | likely_pathogenic | 0.8555 | pathogenic | -1.613 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9005 | likely_pathogenic | 0.7727 | pathogenic | -2.774 | Highly Destabilizing | None | None | None | None | N | 0.470975667 | None | None | N |
| V/E | 0.7038 | likely_pathogenic | 0.5244 | ambiguous | -2.675 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.4432 | ambiguous | 0.2837 | benign | -1.266 | Destabilizing | None | None | None | None | N | 0.472852795 | None | None | N |
| V/G | 0.7489 | likely_pathogenic | 0.6128 | pathogenic | -2.313 | Highly Destabilizing | None | None | None | None | N | 0.477812522 | None | None | N |
| V/H | 0.903 | likely_pathogenic | 0.7884 | pathogenic | -1.931 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.0909 | likely_benign | 0.0691 | benign | -0.844 | Destabilizing | None | None | None | None | N | 0.457805984 | None | None | N |
| V/K | 0.7158 | likely_pathogenic | 0.524 | ambiguous | -1.591 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.4192 | ambiguous | 0.2655 | benign | -0.844 | Destabilizing | None | None | None | None | N | 0.467598903 | None | None | N |
| V/M | 0.2795 | likely_benign | 0.1704 | benign | -0.871 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.803 | likely_pathogenic | 0.58 | pathogenic | -1.715 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9797 | likely_pathogenic | 0.9603 | pathogenic | -1.171 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.6771 | likely_pathogenic | 0.5217 | ambiguous | -1.775 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.6274 | likely_pathogenic | 0.4409 | ambiguous | -1.188 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.6941 | likely_pathogenic | 0.5 | ambiguous | -2.201 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.446 | ambiguous | 0.2884 | benign | -1.994 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9576 | likely_pathogenic | 0.9109 | pathogenic | -1.676 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.8738 | likely_pathogenic | 0.7493 | pathogenic | -1.359 | 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.