Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33884 | 101875;101876;101877 | chr2:178534965;178534964;178534963 | chr2:179399692;179399691;179399690 |
| N2AB | 32243 | 96952;96953;96954 | chr2:178534965;178534964;178534963 | chr2:179399692;179399691;179399690 |
| N2A | 31316 | 94171;94172;94173 | chr2:178534965;178534964;178534963 | chr2:179399692;179399691;179399690 |
| N2B | 24819 | 74680;74681;74682 | chr2:178534965;178534964;178534963 | chr2:179399692;179399691;179399690 |
| Novex-1 | 24944 | 75055;75056;75057 | chr2:178534965;178534964;178534963 | chr2:179399692;179399691;179399690 |
| Novex-2 | 25011 | 75256;75257;75258 | chr2:178534965;178534964;178534963 | chr2:179399692;179399691;179399690 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: AGC
- RefSeq wild type template codon: TCG
- Domain: Kinase-1
- Domain position: 72
- Q(SASA): 0.1927
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | rs758420542  |
-0.246 | None | N | None | 0.594 | 0.373715746628 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs758420542 |
-0.246 | None | N | None | 0.594 | 0.373715746628 | gnomAD-4.0.0 | 1.59328E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77377E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1933 | likely_benign | 0.2358 | benign | -0.271 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/C | 0.2694 | likely_benign | 0.2969 | benign | -0.237 | Destabilizing | None | None | None | None | N | 0.516588582 | None | None | N |
| S/D | 0.6488 | likely_pathogenic | 0.6856 | pathogenic | -0.088 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.8405 | likely_pathogenic | 0.8654 | pathogenic | -0.17 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.7478 | likely_pathogenic | 0.8143 | pathogenic | -0.739 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.2021 | likely_benign | 0.2401 | benign | -0.414 | Destabilizing | None | None | None | None | N | 0.493442363 | None | None | N |
| S/H | 0.7402 | likely_pathogenic | 0.7641 | pathogenic | -0.87 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.7224 | likely_pathogenic | 0.7941 | pathogenic | -0.025 | Destabilizing | None | None | None | None | D | 0.532134037 | None | None | N |
| S/K | 0.9374 | likely_pathogenic | 0.9484 | pathogenic | -0.592 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.4314 | ambiguous | 0.5178 | ambiguous | -0.025 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.5519 | ambiguous | 0.6217 | pathogenic | 0.137 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.3024 | likely_benign | 0.3353 | benign | -0.289 | Destabilizing | None | None | None | None | N | 0.473200377 | None | None | N |
| S/P | 0.9381 | likely_pathogenic | 0.9528 | pathogenic | -0.076 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Q | 0.8499 | likely_pathogenic | 0.8775 | pathogenic | -0.531 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.9247 | likely_pathogenic | 0.9368 | pathogenic | -0.328 | Destabilizing | None | None | None | None | N | 0.520895537 | None | None | N |
| S/T | 0.1502 | likely_benign | 0.1619 | benign | -0.348 | Destabilizing | None | None | None | None | N | 0.407514103 | None | None | N |
| S/V | 0.6268 | likely_pathogenic | 0.7125 | pathogenic | -0.076 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.8512 | likely_pathogenic | 0.8744 | pathogenic | -0.773 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.6211 | likely_pathogenic | 0.661 | pathogenic | -0.5 | 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.