Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33987 | 102184;102185;102186 | chr2:178534656;178534655;178534654 | chr2:179399383;179399382;179399381 |
| N2AB | 32346 | 97261;97262;97263 | chr2:178534656;178534655;178534654 | chr2:179399383;179399382;179399381 |
| N2A | 31419 | 94480;94481;94482 | chr2:178534656;178534655;178534654 | chr2:179399383;179399382;179399381 |
| N2B | 24922 | 74989;74990;74991 | chr2:178534656;178534655;178534654 | chr2:179399383;179399382;179399381 |
| Novex-1 | 25047 | 75364;75365;75366 | chr2:178534656;178534655;178534654 | chr2:179399383;179399382;179399381 |
| Novex-2 | 25114 | 75565;75566;75567 | chr2:178534656;178534655;178534654 | chr2:179399383;179399382;179399381 |
| 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: 175
- Q(SASA): 0.1326
- 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/N | rs1690646810  |
None | None | N | None | 0.435 | 0.405560941015 | gnomAD-4.0.0 | 1.59176E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85954E-06 | 0 | 0 |
| H/R | None | None | None | N | None | 0.519 | 0.377976839388 | gnomAD-4.0.0 | 1.59172E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88253E-05 | 0 | 0 | 0 | 0 |
| H/Y | rs1690646810 |
None | None | N | None | 0.445 | 0.357724736475 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | rs1690646810 |
None | None | N | None | 0.445 | 0.357724736475 | gnomAD-4.0.0 | 6.57117E-06 | None | None | None | None | N | None | 0 | 6.54879E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.7001 | likely_pathogenic | 0.8217 | pathogenic | -2.287 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.4328 | ambiguous | 0.4738 | ambiguous | -1.334 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.7598 | likely_pathogenic | 0.8365 | pathogenic | -2.349 | Highly Destabilizing | None | None | None | None | N | 0.45092095 | None | None | N |
| H/E | 0.7103 | likely_pathogenic | 0.8374 | pathogenic | -2.16 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.523 | ambiguous | 0.6066 | pathogenic | -0.211 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.776 | likely_pathogenic | 0.8485 | pathogenic | -2.68 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.6151 | likely_pathogenic | 0.7556 | pathogenic | -1.093 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.6524 | likely_pathogenic | 0.7762 | pathogenic | -1.77 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.2607 | likely_benign | 0.3242 | benign | -1.093 | Destabilizing | None | None | None | None | N | 0.292606942 | None | None | N |
| H/M | 0.7099 | likely_pathogenic | 0.8218 | pathogenic | -1.132 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.3512 | ambiguous | 0.4707 | ambiguous | -2.379 | Highly Destabilizing | None | None | None | None | N | 0.45838564 | None | None | N |
| H/P | 0.5246 | ambiguous | 0.5594 | ambiguous | -1.487 | Destabilizing | None | None | None | None | N | 0.469506711 | None | None | N |
| H/Q | 0.4447 | ambiguous | 0.6544 | pathogenic | -1.974 | Destabilizing | None | None | None | None | N | 0.444821697 | None | None | N |
| H/R | 0.4011 | ambiguous | 0.5381 | ambiguous | -2.102 | Highly Destabilizing | None | None | None | None | N | 0.432161831 | None | None | N |
| H/S | 0.5781 | likely_pathogenic | 0.6941 | pathogenic | -2.418 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.7076 | likely_pathogenic | 0.8359 | pathogenic | -2.124 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.5745 | likely_pathogenic | 0.7332 | pathogenic | -1.487 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.6425 | likely_pathogenic | 0.7094 | pathogenic | 0.313 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.2413 | likely_benign | 0.2868 | benign | -0.029 | Destabilizing | None | None | None | None | N | 0.391411287 | 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.