Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34125 | 102598;102599;102600 | chr2:178534242;178534241;178534240 | chr2:179398969;179398968;179398967 |
| N2AB | 32484 | 97675;97676;97677 | chr2:178534242;178534241;178534240 | chr2:179398969;179398968;179398967 |
| N2A | 31557 | 94894;94895;94896 | chr2:178534242;178534241;178534240 | chr2:179398969;179398968;179398967 |
| N2B | 25060 | 75403;75404;75405 | chr2:178534242;178534241;178534240 | chr2:179398969;179398968;179398967 |
| Novex-1 | 25185 | 75778;75779;75780 | chr2:178534242;178534241;178534240 | chr2:179398969;179398968;179398967 |
| Novex-2 | 25252 | 75979;75980;75981 | chr2:178534242;178534241;178534240 | chr2:179398969;179398968;179398967 |
| 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: 313
- Q(SASA): 0.3626
- 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 | rs762110611  |
-1.328 | None | N | None | 0.226 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| V/A | rs762110611 |
-1.328 | None | N | None | 0.226 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs762110611 |
-1.328 | None | N | None | 0.226 | None | gnomAD-4.0.0 | 6.40403E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19629E-05 | 0 | 0 |
| V/I | rs765603620 |
-0.38 | None | N | None | 0.087 | 0.302459207581 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 8.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs765603620 |
-0.38 | None | N | None | 0.087 | 0.302459207581 | gnomAD-4.0.0 | 2.73662E-06 | None | None | None | None | N | None | 0 | 4.47247E-05 | None | 0 | 0 | None | 0 | 0 | 1.79883E-06 | 0 | 0 |
| V/L | rs765603620 |
-0.383 | None | N | None | 0.052 | 0.399596177874 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/L | rs765603620 |
-0.383 | None | N | None | 0.052 | 0.399596177874 | gnomAD-4.0.0 | 4.10493E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.95588E-05 | 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 | 0.3074 | likely_benign | 0.4091 | ambiguous | -1.299 | Destabilizing | None | None | None | None | N | 0.456825415 | None | None | N |
| V/C | 0.8503 | likely_pathogenic | 0.8926 | pathogenic | -0.666 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.8617 | likely_pathogenic | 0.8746 | pathogenic | -1.077 | Destabilizing | None | None | None | None | N | 0.457692207 | None | None | N |
| V/E | 0.7723 | likely_pathogenic | 0.7736 | pathogenic | -1.063 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.3009 | likely_benign | 0.3608 | ambiguous | -0.935 | Destabilizing | None | None | None | None | N | 0.457865565 | None | None | N |
| V/G | 0.5511 | ambiguous | 0.6356 | pathogenic | -1.62 | Destabilizing | None | None | None | None | N | 0.457172132 | None | None | N |
| V/H | 0.8684 | likely_pathogenic | 0.8957 | pathogenic | -1.148 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.0828 | likely_benign | 0.1152 | benign | -0.516 | Destabilizing | None | None | None | None | N | 0.456652057 | None | None | N |
| V/K | 0.7658 | likely_pathogenic | 0.7643 | pathogenic | -1.091 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.3013 | likely_benign | 0.4383 | ambiguous | -0.516 | Destabilizing | None | None | None | None | N | 0.456652057 | None | None | N |
| V/M | 0.2327 | likely_benign | 0.3439 | ambiguous | -0.35 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.6537 | likely_pathogenic | 0.7455 | pathogenic | -0.865 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.8011 | likely_pathogenic | 0.8648 | pathogenic | -0.742 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.7243 | likely_pathogenic | 0.7581 | pathogenic | -0.998 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.7188 | likely_pathogenic | 0.6848 | pathogenic | -0.601 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.4827 | ambiguous | 0.5652 | pathogenic | -1.363 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.3121 | likely_benign | 0.3769 | ambiguous | -1.241 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9406 | likely_pathogenic | 0.9573 | pathogenic | -1.169 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.793 | likely_pathogenic | 0.8226 | pathogenic | -0.86 | 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.