Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33977 | 102154;102155;102156 | chr2:178534686;178534685;178534684 | chr2:179399413;179399412;179399411 |
| N2AB | 32336 | 97231;97232;97233 | chr2:178534686;178534685;178534684 | chr2:179399413;179399412;179399411 |
| N2A | 31409 | 94450;94451;94452 | chr2:178534686;178534685;178534684 | chr2:179399413;179399412;179399411 |
| N2B | 24912 | 74959;74960;74961 | chr2:178534686;178534685;178534684 | chr2:179399413;179399412;179399411 |
| Novex-1 | 25037 | 75334;75335;75336 | chr2:178534686;178534685;178534684 | chr2:179399413;179399412;179399411 |
| Novex-2 | 25104 | 75535;75536;75537 | chr2:178534686;178534685;178534684 | chr2:179399413;179399412;179399411 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: T
- RefSeq wild type transcript codon: ACT
- RefSeq wild type template codon: TGA
- Domain: Kinase-1
- Domain position: 165
- Q(SASA): 0.2959
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1434947550  |
-0.76 | None | N | None | 0.089 | 0.203808441222 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs1434947550 |
-0.76 | None | N | None | 0.089 | 0.203808441222 | gnomAD-4.0.0 | 3.04476E-06 | None | None | None | None | N | None | 3.49382E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20493E-06 | 0 | 0 |
| T/I | None | None | None | N | None | 0.358 | 0.42264334713 | gnomAD-4.0.0 | 3.1826E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86574E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2036 | likely_benign | 0.2563 | benign | -0.666 | Destabilizing | None | None | None | None | N | 0.48077971 | None | None | N |
| T/C | 0.6774 | likely_pathogenic | 0.7449 | pathogenic | -0.496 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.7469 | likely_pathogenic | 0.8181 | pathogenic | 0.405 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.6677 | likely_pathogenic | 0.75 | pathogenic | 0.417 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.7236 | likely_pathogenic | 0.779 | pathogenic | -0.83 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.5217 | ambiguous | 0.6099 | pathogenic | -0.899 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.5783 | likely_pathogenic | 0.6383 | pathogenic | -0.983 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.587 | likely_pathogenic | 0.6679 | pathogenic | -0.141 | Destabilizing | None | None | None | None | N | 0.511449334 | None | None | N |
| T/K | 0.551 | ambiguous | 0.6192 | pathogenic | -0.355 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/L | 0.3115 | likely_benign | 0.3764 | ambiguous | -0.141 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.2823 | likely_benign | 0.3517 | ambiguous | -0.212 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.3437 | ambiguous | 0.4453 | ambiguous | -0.384 | Destabilizing | None | None | None | None | D | 0.530824529 | None | None | N |
| T/P | 0.3494 | ambiguous | 0.5207 | ambiguous | -0.285 | Destabilizing | None | None | None | None | D | 0.530997887 | None | None | N |
| T/Q | 0.5298 | ambiguous | 0.6046 | pathogenic | -0.443 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.4881 | ambiguous | 0.5348 | ambiguous | -0.178 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/S | 0.2154 | likely_benign | 0.2742 | benign | -0.712 | Destabilizing | None | None | None | None | N | 0.464156819 | None | None | N |
| T/V | 0.4053 | ambiguous | 0.4576 | ambiguous | -0.285 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.9227 | likely_pathogenic | 0.9354 | pathogenic | -0.806 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.7105 | likely_pathogenic | 0.7657 | pathogenic | -0.524 | 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.