Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33839 | 101740;101741;101742 | chr2:178535100;178535099;178535098 | chr2:179399827;179399826;179399825 |
| N2AB | 32198 | 96817;96818;96819 | chr2:178535100;178535099;178535098 | chr2:179399827;179399826;179399825 |
| N2A | 31271 | 94036;94037;94038 | chr2:178535100;178535099;178535098 | chr2:179399827;179399826;179399825 |
| N2B | 24774 | 74545;74546;74547 | chr2:178535100;178535099;178535098 | chr2:179399827;179399826;179399825 |
| Novex-1 | 24899 | 74920;74921;74922 | chr2:178535100;178535099;178535098 | chr2:179399827;179399826;179399825 |
| Novex-2 | 24966 | 75121;75122;75123 | chr2:178535100;178535099;178535098 | chr2:179399827;179399826;179399825 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: T
- RefSeq wild type transcript codon: ACA
- RefSeq wild type template codon: TGT
- Domain: Kinase-1
- Domain position: 27
- Q(SASA): 0.5322
- 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/I | None | None | None | N | None | 0.095 | 0.321672782286 | gnomAD-4.0.0 | 1.59131E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77269E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.106 | likely_benign | 0.1071 | benign | -0.795 | Destabilizing | None | None | None | None | N | 0.476277968 | None | None | N |
| T/C | 0.5149 | ambiguous | 0.5331 | ambiguous | -0.432 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.5056 | ambiguous | 0.4385 | ambiguous | -0.2 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.3914 | ambiguous | 0.3729 | ambiguous | -0.227 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.3386 | likely_benign | 0.2888 | benign | -1.074 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.3458 | ambiguous | 0.3104 | benign | -1.009 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.342 | ambiguous | 0.322 | benign | -1.395 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.1342 | likely_benign | 0.134 | benign | -0.327 | Destabilizing | None | None | None | None | N | 0.452555746 | None | None | N |
| T/K | 0.2458 | likely_benign | 0.2274 | benign | -0.6 | Destabilizing | None | None | None | None | N | 0.367590278 | None | None | N |
| T/L | 0.1105 | likely_benign | 0.1156 | benign | -0.327 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.0974 | likely_benign | 0.1099 | benign | 0.098 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.1284 | likely_benign | 0.1115 | benign | -0.488 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/P | 0.2867 | likely_benign | 0.2671 | benign | -0.452 | Destabilizing | None | None | None | None | N | 0.494461084 | None | None | N |
| T/Q | 0.3008 | likely_benign | 0.2968 | benign | -0.738 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.2261 | likely_benign | 0.1968 | benign | -0.348 | Destabilizing | None | None | None | None | N | 0.421078046 | None | None | N |
| T/S | 0.1642 | likely_benign | 0.152 | benign | -0.761 | Destabilizing | None | None | None | None | N | 0.482377221 | None | None | N |
| T/V | 0.1335 | likely_benign | 0.1375 | benign | -0.452 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.7479 | likely_pathogenic | 0.7123 | pathogenic | -0.991 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.3567 | ambiguous | 0.332 | benign | -0.745 | 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.