Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34096 | 102511;102512;102513 | chr2:178534329;178534328;178534327 | chr2:179399056;179399055;179399054 |
| N2AB | 32455 | 97588;97589;97590 | chr2:178534329;178534328;178534327 | chr2:179399056;179399055;179399054 |
| N2A | 31528 | 94807;94808;94809 | chr2:178534329;178534328;178534327 | chr2:179399056;179399055;179399054 |
| N2B | 25031 | 75316;75317;75318 | chr2:178534329;178534328;178534327 | chr2:179399056;179399055;179399054 |
| Novex-1 | 25156 | 75691;75692;75693 | chr2:178534329;178534328;178534327 | chr2:179399056;179399055;179399054 |
| Novex-2 | 25223 | 75892;75893;75894 | chr2:178534329;178534328;178534327 | chr2:179399056;179399055;179399054 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: T
- RefSeq wild type transcript codon: ACC
- RefSeq wild type template codon: TGG
- Domain: Kinase-1
- Domain position: 284
- Q(SASA): 0.5371
- Predicted PPI site: I
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs375002174  |
0.354 | None | N | None | 0.22 | 0.221734844693 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| T/I | rs375002174 |
0.354 | None | N | None | 0.22 | 0.221734844693 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| T/I | rs375002174 |
0.354 | None | N | None | 0.22 | 0.221734844693 | gnomAD-4.0.0 | 6.19917E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09786E-04 | 0 |
| T/N | rs375002174 |
-0.172 | None | N | None | 0.13 | None | gnomAD-2.1.1 | 5.24E-05 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.26776E-04 | None | 0 | 8.9E-06 | 1.66003E-04 |
| T/N | rs375002174 |
-0.172 | None | N | None | 0.13 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 2.07125E-04 | 4.77555E-04 |
| T/N | rs375002174 |
-0.172 | None | N | None | 0.13 | None | gnomAD-4.0.0 | 3.84349E-05 | None | None | None | None | I | None | 0 | 5.0005E-05 | None | 0 | 0 | None | 0 | 3.28731E-04 | 1.77991E-05 | 3.40338E-04 | 8.00487E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1294 | likely_benign | 0.1694 | benign | -0.653 | Destabilizing | None | None | None | None | N | 0.427579078 | None | None | I |
| T/C | 0.6358 | likely_pathogenic | 0.7352 | pathogenic | -0.345 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/D | 0.6387 | likely_pathogenic | 0.6937 | pathogenic | 0.241 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/E | 0.5809 | likely_pathogenic | 0.6344 | pathogenic | 0.259 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/F | 0.5341 | ambiguous | 0.6218 | pathogenic | -0.769 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/G | 0.3693 | ambiguous | 0.462 | ambiguous | -0.913 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/H | 0.417 | ambiguous | 0.468 | ambiguous | -1.124 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/I | 0.3887 | ambiguous | 0.4681 | ambiguous | -0.054 | Destabilizing | None | None | None | None | N | 0.409513392 | None | None | I |
| T/K | 0.4645 | ambiguous | 0.451 | ambiguous | -0.461 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/L | 0.2101 | likely_benign | 0.2496 | benign | -0.054 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/M | 0.1874 | likely_benign | 0.2333 | benign | 0.035 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/N | 0.2057 | likely_benign | 0.2721 | benign | -0.477 | Destabilizing | None | None | None | None | N | 0.428272511 | None | None | I |
| T/P | 0.4447 | ambiguous | 0.5484 | ambiguous | -0.221 | Destabilizing | None | None | None | None | N | 0.428272511 | None | None | I |
| T/Q | 0.3943 | ambiguous | 0.4412 | ambiguous | -0.52 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/R | 0.3887 | ambiguous | 0.3625 | ambiguous | -0.331 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/S | 0.1815 | likely_benign | 0.2226 | benign | -0.773 | Destabilizing | None | None | None | None | N | 0.427059003 | None | None | I |
| T/V | 0.2779 | likely_benign | 0.3478 | ambiguous | -0.221 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/W | 0.8597 | likely_pathogenic | 0.8951 | pathogenic | -0.774 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Y | 0.5029 | ambiguous | 0.5771 | pathogenic | -0.5 | Destabilizing | None | None | None | None | None | None | None | None | I |
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.