Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34062 | 102409;102410;102411 | chr2:178534431;178534430;178534429 | chr2:179399158;179399157;179399156 |
| N2AB | 32421 | 97486;97487;97488 | chr2:178534431;178534430;178534429 | chr2:179399158;179399157;179399156 |
| N2A | 31494 | 94705;94706;94707 | chr2:178534431;178534430;178534429 | chr2:179399158;179399157;179399156 |
| N2B | 24997 | 75214;75215;75216 | chr2:178534431;178534430;178534429 | chr2:179399158;179399157;179399156 |
| Novex-1 | 25122 | 75589;75590;75591 | chr2:178534431;178534430;178534429 | chr2:179399158;179399157;179399156 |
| Novex-2 | 25189 | 75790;75791;75792 | chr2:178534431;178534430;178534429 | chr2:179399158;179399157;179399156 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: M
- RefSeq wild type transcript codon: ATG
- RefSeq wild type template codon: TAC
- Domain: Kinase-1
- Domain position: 250
- Q(SASA): 0.0912
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/K | None | None | None | N | None | 0.454 | 0.526641945673 | gnomAD-4.0.0 | 6.84852E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99457E-07 | 0 | 0 |
| M/L | None | None | None | N | None | 0.338 | 0.355658859761 | gnomAD-4.0.0 | 1.59473E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| M/R | rs1690534459  |
None | None | N | None | 0.476 | 0.527356302626 | gnomAD-4.0.0 | 4.10911E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.51164E-04 | None | 0 | 0 | 0 | 0 | 0 |
| M/T | rs1690534459 |
None | None | N | None | 0.428 | 0.670318094274 | gnomAD-4.0.0 | 6.84852E-07 | None | None | None | None | N | None | 2.98739E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.9426 | likely_pathogenic | 0.9456 | pathogenic | -2.582 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/C | 0.9526 | likely_pathogenic | 0.956 | pathogenic | -2.035 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/D | 0.9935 | likely_pathogenic | 0.9942 | pathogenic | -1.661 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/E | 0.965 | likely_pathogenic | 0.9694 | pathogenic | -1.518 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/F | 0.6941 | likely_pathogenic | 0.6774 | pathogenic | -1.168 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/G | 0.9709 | likely_pathogenic | 0.9729 | pathogenic | -3.015 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/H | 0.9637 | likely_pathogenic | 0.9638 | pathogenic | -2.238 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/I | 0.8941 | likely_pathogenic | 0.8822 | pathogenic | -1.373 | Destabilizing | None | None | None | None | N | 0.399352327 | None | None | N |
| M/K | 0.862 | likely_pathogenic | 0.8676 | pathogenic | -1.409 | Destabilizing | None | None | None | None | N | 0.460780996 | None | None | N |
| M/L | 0.3487 | ambiguous | 0.3373 | benign | -1.373 | Destabilizing | None | None | None | None | N | 0.369664138 | None | None | N |
| M/N | 0.962 | likely_pathogenic | 0.9683 | pathogenic | -1.497 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/P | 0.9779 | likely_pathogenic | 0.9837 | pathogenic | -1.755 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Q | 0.8258 | likely_pathogenic | 0.8247 | pathogenic | -1.39 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/R | 0.8947 | likely_pathogenic | 0.8968 | pathogenic | -1.134 | Destabilizing | None | None | None | None | N | 0.460780996 | None | None | N |
| M/S | 0.9558 | likely_pathogenic | 0.9605 | pathogenic | -2.168 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/T | 0.9542 | likely_pathogenic | 0.9532 | pathogenic | -1.903 | Destabilizing | None | None | None | None | N | 0.511965756 | None | None | N |
| M/V | 0.5466 | ambiguous | 0.5647 | pathogenic | -1.755 | Destabilizing | None | None | None | None | N | 0.486664667 | None | None | N |
| M/W | 0.954 | likely_pathogenic | 0.9522 | pathogenic | -1.262 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Y | 0.927 | likely_pathogenic | 0.925 | pathogenic | -1.34 | 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.