Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34006 | 102241;102242;102243 | chr2:178534599;178534598;178534597 | chr2:179399326;179399325;179399324 |
| N2AB | 32365 | 97318;97319;97320 | chr2:178534599;178534598;178534597 | chr2:179399326;179399325;179399324 |
| N2A | 31438 | 94537;94538;94539 | chr2:178534599;178534598;178534597 | chr2:179399326;179399325;179399324 |
| N2B | 24941 | 75046;75047;75048 | chr2:178534599;178534598;178534597 | chr2:179399326;179399325;179399324 |
| Novex-1 | 25066 | 75421;75422;75423 | chr2:178534599;178534598;178534597 | chr2:179399326;179399325;179399324 |
| Novex-2 | 25133 | 75622;75623;75624 | chr2:178534599;178534598;178534597 | chr2:179399326;179399325;179399324 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Y
- RefSeq wild type transcript codon: TAT
- RefSeq wild type template codon: ATA
- Domain: Kinase-1
- Domain position: 194
- Q(SASA): 0.0628
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | None | None | None | N | None | 0.529 | 0.499345284858 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 5.65547E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9612 | likely_pathogenic | 0.9519 | pathogenic | -2.247 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/C | 0.7458 | likely_pathogenic | 0.6997 | pathogenic | -0.516 | Destabilizing | None | None | None | None | N | 0.502961577 | None | None | N |
| Y/D | 0.9833 | likely_pathogenic | 0.9788 | pathogenic | -2.64 | Highly Destabilizing | None | None | None | None | N | 0.514317882 | None | None | N |
| Y/E | 0.9942 | likely_pathogenic | 0.9925 | pathogenic | -2.406 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/F | 0.2546 | likely_benign | 0.2259 | benign | -0.863 | Destabilizing | None | None | None | None | N | 0.482475142 | None | None | N |
| Y/G | 0.9416 | likely_pathogenic | 0.9333 | pathogenic | -2.656 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/H | 0.8973 | likely_pathogenic | 0.8709 | pathogenic | -2.294 | Highly Destabilizing | None | None | None | None | N | 0.478020467 | None | None | N |
| Y/I | 0.9601 | likely_pathogenic | 0.9523 | pathogenic | -0.877 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/K | 0.9933 | likely_pathogenic | 0.9915 | pathogenic | -1.362 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/L | 0.8594 | likely_pathogenic | 0.8407 | pathogenic | -0.877 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/M | 0.9502 | likely_pathogenic | 0.9392 | pathogenic | -0.635 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/N | 0.918 | likely_pathogenic | 0.894 | pathogenic | -2.185 | Highly Destabilizing | None | None | None | None | D | 0.525838772 | None | None | N |
| Y/P | 0.9957 | likely_pathogenic | 0.9944 | pathogenic | -1.35 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/Q | 0.9908 | likely_pathogenic | 0.9875 | pathogenic | -1.753 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/R | 0.9782 | likely_pathogenic | 0.9722 | pathogenic | -1.78 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/S | 0.8745 | likely_pathogenic | 0.8438 | pathogenic | -2.343 | Highly Destabilizing | None | None | None | None | N | 0.507227538 | None | None | N |
| Y/T | 0.9528 | likely_pathogenic | 0.9457 | pathogenic | -1.968 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/V | 0.9059 | likely_pathogenic | 0.8949 | pathogenic | -1.35 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/W | 0.8258 | likely_pathogenic | 0.7949 | pathogenic | -0.209 | 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.