Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33971 | 102136;102137;102138 | chr2:178534704;178534703;178534702 | chr2:179399431;179399430;179399429 |
| N2AB | 32330 | 97213;97214;97215 | chr2:178534704;178534703;178534702 | chr2:179399431;179399430;179399429 |
| N2A | 31403 | 94432;94433;94434 | chr2:178534704;178534703;178534702 | chr2:179399431;179399430;179399429 |
| N2B | 24906 | 74941;74942;74943 | chr2:178534704;178534703;178534702 | chr2:179399431;179399430;179399429 |
| Novex-1 | 25031 | 75316;75317;75318 | chr2:178534704;178534703;178534702 | chr2:179399431;179399430;179399429 |
| Novex-2 | 25098 | 75517;75518;75519 | chr2:178534704;178534703;178534702 | chr2:179399431;179399430;179399429 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: N
- RefSeq wild type transcript codon: AAC
- RefSeq wild type template codon: TTG
- Domain: Kinase-1
- Domain position: 159
- Q(SASA): 0.5794
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | None | N | None | 0.172 | 0.21279746466 | gnomAD-4.0.0 | 1.59125E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.4219 | ambiguous | 0.4421 | ambiguous | -0.426 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/C | 0.4449 | ambiguous | 0.4346 | ambiguous | 0.277 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/D | 0.3429 | ambiguous | 0.3439 | ambiguous | 0.193 | Stabilizing | None | None | None | None | N | 0.481454501 | None | None | N |
| N/E | 0.6744 | likely_pathogenic | 0.6819 | pathogenic | 0.182 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/F | 0.7936 | likely_pathogenic | 0.7808 | pathogenic | -0.681 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/G | 0.4805 | ambiguous | 0.4974 | ambiguous | -0.634 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/H | 0.2023 | likely_benign | 0.2099 | benign | -0.574 | Destabilizing | None | None | None | None | N | 0.486014959 | None | None | N |
| N/I | 0.3789 | ambiguous | 0.3907 | ambiguous | 0.04 | Stabilizing | None | None | None | None | N | 0.447035283 | None | None | N |
| N/K | 0.6426 | likely_pathogenic | 0.6041 | pathogenic | 0.064 | Stabilizing | None | None | None | None | N | 0.449976801 | None | None | N |
| N/L | 0.4184 | ambiguous | 0.4357 | ambiguous | 0.04 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/M | 0.619 | likely_pathogenic | 0.6401 | pathogenic | 0.318 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/P | 0.634 | likely_pathogenic | 0.6925 | pathogenic | -0.088 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Q | 0.5597 | ambiguous | 0.5764 | pathogenic | -0.397 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/R | 0.5934 | likely_pathogenic | 0.5487 | ambiguous | 0.103 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/S | 0.1145 | likely_benign | 0.1239 | benign | -0.246 | Destabilizing | None | None | None | None | N | 0.460116437 | None | None | N |
| N/T | 0.1872 | likely_benign | 0.2045 | benign | -0.098 | Destabilizing | None | None | None | None | N | 0.456134769 | None | None | N |
| N/V | 0.3921 | ambiguous | 0.4233 | ambiguous | -0.088 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/W | 0.9311 | likely_pathogenic | 0.9371 | pathogenic | -0.62 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Y | 0.3381 | likely_benign | 0.3293 | benign | -0.369 | Destabilizing | None | None | None | None | N | 0.491652852 | 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.