Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34090 | 102493;102494;102495 | chr2:178534347;178534346;178534345 | chr2:179399074;179399073;179399072 |
| N2AB | 32449 | 97570;97571;97572 | chr2:178534347;178534346;178534345 | chr2:179399074;179399073;179399072 |
| N2A | 31522 | 94789;94790;94791 | chr2:178534347;178534346;178534345 | chr2:179399074;179399073;179399072 |
| N2B | 25025 | 75298;75299;75300 | chr2:178534347;178534346;178534345 | chr2:179399074;179399073;179399072 |
| Novex-1 | 25150 | 75673;75674;75675 | chr2:178534347;178534346;178534345 | chr2:179399074;179399073;179399072 |
| Novex-2 | 25217 | 75874;75875;75876 | chr2:178534347;178534346;178534345 | chr2:179399074;179399073;179399072 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: H
- RefSeq wild type transcript codon: CAC
- RefSeq wild type template codon: GTG
- Domain: Kinase-1
- Domain position: 278
- Q(SASA): 0.0965
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Q | None | None | None | N | None | 0.241 | 0.193865811164 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| H/Y | None | None | None | N | None | 0.407 | 0.230578612272 | gnomAD-4.0.0 | 6.84947E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99447E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9506 | likely_pathogenic | 0.9536 | pathogenic | -1.899 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.7499 | likely_pathogenic | 0.7651 | pathogenic | -1.411 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.9241 | likely_pathogenic | 0.9375 | pathogenic | -1.909 | Destabilizing | None | None | None | None | N | 0.438622791 | None | None | N |
| H/E | 0.9374 | likely_pathogenic | 0.9336 | pathogenic | -1.685 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.7812 | likely_pathogenic | 0.7963 | pathogenic | 0.002 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.9457 | likely_pathogenic | 0.9457 | pathogenic | -2.334 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.9497 | likely_pathogenic | 0.9588 | pathogenic | -0.591 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.9276 | likely_pathogenic | 0.9168 | pathogenic | -1.243 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.6881 | likely_pathogenic | 0.7087 | pathogenic | -0.591 | Destabilizing | None | None | None | None | N | 0.436889207 | None | None | N |
| H/M | 0.9285 | likely_pathogenic | 0.926 | pathogenic | -0.956 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.6351 | likely_pathogenic | 0.6766 | pathogenic | -2.074 | Highly Destabilizing | None | None | None | None | N | 0.438622791 | None | None | N |
| H/P | 0.8117 | likely_pathogenic | 0.8658 | pathogenic | -1.02 | Destabilizing | None | None | None | None | N | 0.437582641 | None | None | N |
| H/Q | 0.8513 | likely_pathogenic | 0.8469 | pathogenic | -1.589 | Destabilizing | None | None | None | None | N | 0.438449432 | None | None | N |
| H/R | 0.878 | likely_pathogenic | 0.8632 | pathogenic | -1.423 | Destabilizing | None | None | None | None | N | 0.438276074 | None | None | N |
| H/S | 0.8969 | likely_pathogenic | 0.9045 | pathogenic | -2.291 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.9548 | likely_pathogenic | 0.9614 | pathogenic | -1.934 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.9427 | likely_pathogenic | 0.9502 | pathogenic | -1.02 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.819 | likely_pathogenic | 0.8472 | pathogenic | 0.581 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.4583 | ambiguous | 0.488 | ambiguous | 0.359 | Stabilizing | None | None | None | None | N | 0.438449432 | 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.