Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34050 | 102373;102374;102375 | chr2:178534467;178534466;178534465 | chr2:179399194;179399193;179399192 |
| N2AB | 32409 | 97450;97451;97452 | chr2:178534467;178534466;178534465 | chr2:179399194;179399193;179399192 |
| N2A | 31482 | 94669;94670;94671 | chr2:178534467;178534466;178534465 | chr2:179399194;179399193;179399192 |
| N2B | 24985 | 75178;75179;75180 | chr2:178534467;178534466;178534465 | chr2:179399194;179399193;179399192 |
| Novex-1 | 25110 | 75553;75554;75555 | chr2:178534467;178534466;178534465 | chr2:179399194;179399193;179399192 |
| Novex-2 | 25177 | 75754;75755;75756 | chr2:178534467;178534466;178534465 | chr2:179399194;179399193;179399192 |
| 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: 238
- Q(SASA): 0.0765
- 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/I | rs1575280335  |
None | None | N | None | 0.06 | 0.268211541103 | gnomAD-4.0.0 | 7.52809E-06 | None | None | None | None | N | None | 0 | 2.45975E-04 | 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 | 0.6025 | likely_pathogenic | 0.5794 | pathogenic | -1.925 | Destabilizing | None | None | None | None | D | 0.529616594 | None | None | N |
| V/C | 0.9151 | likely_pathogenic | 0.9141 | pathogenic | -0.862 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9897 | likely_pathogenic | 0.9869 | pathogenic | -2.652 | Highly Destabilizing | None | None | None | None | N | 0.493155657 | None | None | N |
| V/E | 0.9696 | likely_pathogenic | 0.9617 | pathogenic | -2.31 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.7601 | likely_pathogenic | 0.7406 | pathogenic | -1.048 | Destabilizing | None | None | None | None | N | 0.519439673 | None | None | N |
| V/G | 0.875 | likely_pathogenic | 0.8642 | pathogenic | -2.539 | Highly Destabilizing | None | None | None | None | N | 0.493155657 | None | None | N |
| V/H | 0.9895 | likely_pathogenic | 0.9863 | pathogenic | -2.68 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1326 | likely_benign | 0.1273 | benign | -0.11 | Destabilizing | None | None | None | None | N | 0.387098758 | None | None | N |
| V/K | 0.9783 | likely_pathogenic | 0.9702 | pathogenic | -1.207 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.4895 | ambiguous | 0.4968 | ambiguous | -0.11 | Destabilizing | None | None | None | None | N | 0.381829011 | None | None | N |
| V/M | 0.5487 | ambiguous | 0.5489 | ambiguous | -0.344 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.9665 | likely_pathogenic | 0.9563 | pathogenic | -2.023 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9905 | likely_pathogenic | 0.9898 | pathogenic | -0.701 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.9657 | likely_pathogenic | 0.9578 | pathogenic | -1.518 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.9524 | likely_pathogenic | 0.9353 | pathogenic | -1.728 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.8384 | likely_pathogenic | 0.8134 | pathogenic | -2.385 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.5301 | ambiguous | 0.4955 | ambiguous | -1.868 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9937 | likely_pathogenic | 0.9932 | pathogenic | -1.493 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9769 | likely_pathogenic | 0.9719 | pathogenic | -1.232 | 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.