Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33858 | 101797;101798;101799 | chr2:178535043;178535042;178535041 | chr2:179399770;179399769;179399768 |
| N2AB | 32217 | 96874;96875;96876 | chr2:178535043;178535042;178535041 | chr2:179399770;179399769;179399768 |
| N2A | 31290 | 94093;94094;94095 | chr2:178535043;178535042;178535041 | chr2:179399770;179399769;179399768 |
| N2B | 24793 | 74602;74603;74604 | chr2:178535043;178535042;178535041 | chr2:179399770;179399769;179399768 |
| Novex-1 | 24918 | 74977;74978;74979 | chr2:178535043;178535042;178535041 | chr2:179399770;179399769;179399768 |
| Novex-2 | 24985 | 75178;75179;75180 | chr2:178535043;178535042;178535041 | chr2:179399770;179399769;179399768 |
| 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: 46
- Q(SASA): 0.464
- 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 | rs1172459056  |
None | None | N | None | 0.266 | 0.638114607455 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/D | rs1172459056 |
None | None | N | None | 0.266 | 0.638114607455 | gnomAD-4.0.0 | 1.85904E-06 | None | None | None | None | N | None | 4.00534E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | None | None | None | N | None | 0.173 | 0.555595671355 | gnomAD-4.0.0 | 2.73674E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59769E-06 | 0 | 0 |
| V/L | rs1060500584 |
None | None | N | None | 0.213 | 0.400899426204 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs1060500584 |
None | None | N | None | 0.213 | 0.400899426204 | gnomAD-4.0.0 | 6.57117E-06 | None | None | None | None | N | None | 2.41289E-05 | 0 | 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 | 0.188 | likely_benign | 0.265 | benign | -0.931 | Destabilizing | None | None | None | None | N | 0.429140169 | None | None | N |
| V/C | 0.8027 | likely_pathogenic | 0.8545 | pathogenic | -0.702 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.3332 | likely_benign | 0.4631 | ambiguous | -0.516 | Destabilizing | None | None | None | None | N | 0.438741087 | None | None | N |
| V/E | 0.3016 | likely_benign | 0.3951 | ambiguous | -0.591 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.2306 | likely_benign | 0.28 | benign | -0.925 | Destabilizing | None | None | None | None | N | 0.46725584 | None | None | N |
| V/G | 0.2289 | likely_benign | 0.3153 | benign | -1.151 | Destabilizing | None | None | None | None | N | 0.476259325 | None | None | N |
| V/H | 0.5987 | likely_pathogenic | 0.6974 | pathogenic | -0.69 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1031 | likely_benign | 0.1056 | benign | -0.473 | Destabilizing | None | None | None | None | N | 0.450382232 | None | None | N |
| V/K | 0.4096 | ambiguous | 0.4792 | ambiguous | -0.75 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.2447 | likely_benign | 0.2854 | benign | -0.473 | Destabilizing | None | None | None | None | N | 0.443589546 | None | None | N |
| V/M | 0.2051 | likely_benign | 0.2384 | benign | -0.31 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.2503 | likely_benign | 0.3441 | ambiguous | -0.464 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.5917 | likely_pathogenic | 0.7286 | pathogenic | -0.589 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.3598 | ambiguous | 0.4407 | ambiguous | -0.697 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.4109 | ambiguous | 0.4631 | ambiguous | -0.208 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.2221 | likely_benign | 0.2993 | benign | -0.943 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.2375 | likely_benign | 0.3092 | benign | -0.913 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.8885 | likely_pathogenic | 0.9163 | pathogenic | -1.031 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.5741 | likely_pathogenic | 0.6523 | pathogenic | -0.738 | 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.