Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34033 | 102322;102323;102324 | chr2:178534518;178534517;178534516 | chr2:179399245;179399244;179399243 |
| N2AB | 32392 | 97399;97400;97401 | chr2:178534518;178534517;178534516 | chr2:179399245;179399244;179399243 |
| N2A | 31465 | 94618;94619;94620 | chr2:178534518;178534517;178534516 | chr2:179399245;179399244;179399243 |
| N2B | 24968 | 75127;75128;75129 | chr2:178534518;178534517;178534516 | chr2:179399245;179399244;179399243 |
| Novex-1 | 25093 | 75502;75503;75504 | chr2:178534518;178534517;178534516 | chr2:179399245;179399244;179399243 |
| Novex-2 | 25160 | 75703;75704;75705 | chr2:178534518;178534517;178534516 | chr2:179399245;179399244;179399243 |
| 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: 221
- Q(SASA): 0.467
- 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/S | None | None | None | N | None | 0.087 | 0.0986583533028 | gnomAD-4.0.0 | 1.59132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02425E-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 | 0.121 | likely_benign | 0.1364 | benign | -0.883 | Destabilizing | None | None | None | None | N | 0.464772895 | None | None | N |
| T/C | 0.4622 | ambiguous | 0.5179 | ambiguous | -0.8 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.4248 | ambiguous | 0.4433 | ambiguous | -0.06 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.3908 | ambiguous | 0.4036 | ambiguous | -0.029 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.4107 | ambiguous | 0.4348 | ambiguous | -1.331 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.3531 | ambiguous | 0.3788 | ambiguous | -1.051 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.2928 | likely_benign | 0.3103 | benign | -0.845 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.2218 | likely_benign | 0.2445 | benign | -0.516 | Destabilizing | None | None | None | None | N | 0.477048759 | None | None | N |
| T/K | 0.2912 | likely_benign | 0.2909 | benign | -0.289 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/L | 0.1598 | likely_benign | 0.1624 | benign | -0.516 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.1829 | likely_benign | 0.2055 | benign | -0.768 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.1605 | likely_benign | 0.1706 | benign | -0.509 | Destabilizing | None | None | None | None | N | 0.448880723 | None | None | N |
| T/P | 0.2716 | likely_benign | 0.2805 | benign | -0.614 | Destabilizing | None | None | None | None | N | 0.456865488 | None | None | N |
| T/Q | 0.3037 | likely_benign | 0.3173 | benign | -0.52 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.2288 | likely_benign | 0.2346 | benign | -0.003 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/S | 0.1454 | likely_benign | 0.1475 | benign | -0.815 | Destabilizing | None | None | None | None | N | 0.430948323 | None | None | N |
| T/V | 0.1779 | likely_benign | 0.1901 | benign | -0.614 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.7726 | likely_pathogenic | 0.8088 | pathogenic | -1.369 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.3802 | ambiguous | 0.4172 | ambiguous | -1.048 | 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.