Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33923 | 101992;101993;101994 | chr2:178534848;178534847;178534846 | chr2:179399575;179399574;179399573 |
| N2AB | 32282 | 97069;97070;97071 | chr2:178534848;178534847;178534846 | chr2:179399575;179399574;179399573 |
| N2A | 31355 | 94288;94289;94290 | chr2:178534848;178534847;178534846 | chr2:179399575;179399574;179399573 |
| N2B | 24858 | 74797;74798;74799 | chr2:178534848;178534847;178534846 | chr2:179399575;179399574;179399573 |
| Novex-1 | 24983 | 75172;75173;75174 | chr2:178534848;178534847;178534846 | chr2:179399575;179399574;179399573 |
| Novex-2 | 25050 | 75373;75374;75375 | chr2:178534848;178534847;178534846 | chr2:179399575;179399574;179399573 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: V
- RefSeq wild type transcript codon: GTC
- RefSeq wild type template codon: CAG
- Domain: Kinase-1
- Domain position: 111
- Q(SASA): 0.1396
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | None | None | None | N | None | 0.159 | 0.351830644314 | gnomAD-4.0.0 | 6.86481E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9946E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7133 | likely_pathogenic | 0.6208 | pathogenic | -2.322 | Highly Destabilizing | None | None | None | None | N | 0.465218903 | None | None | N |
| V/C | 0.9446 | likely_pathogenic | 0.9296 | pathogenic | -2.012 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9881 | likely_pathogenic | 0.9847 | pathogenic | -3.63 | Highly Destabilizing | None | None | None | None | N | 0.502240788 | None | None | N |
| V/E | 0.9643 | likely_pathogenic | 0.9574 | pathogenic | -3.324 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.7625 | likely_pathogenic | 0.6718 | pathogenic | -1.519 | Destabilizing | None | None | None | None | N | 0.475489253 | None | None | N |
| V/G | 0.8545 | likely_pathogenic | 0.8001 | pathogenic | -2.919 | Highly Destabilizing | None | None | None | None | N | 0.501987298 | None | None | N |
| V/H | 0.9887 | likely_pathogenic | 0.9858 | pathogenic | -3.028 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1551 | likely_benign | 0.1313 | benign | -0.592 | Destabilizing | None | None | None | None | N | 0.405912939 | None | None | N |
| V/K | 0.981 | likely_pathogenic | 0.9768 | pathogenic | -2.232 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.6709 | likely_pathogenic | 0.5703 | pathogenic | -0.592 | Destabilizing | None | None | None | None | N | 0.440046943 | None | None | N |
| V/M | 0.6484 | likely_pathogenic | 0.5417 | ambiguous | -0.739 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.9584 | likely_pathogenic | 0.9474 | pathogenic | -2.921 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9971 | likely_pathogenic | 0.9959 | pathogenic | -1.15 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.9652 | likely_pathogenic | 0.9598 | pathogenic | -2.578 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.9677 | likely_pathogenic | 0.9632 | pathogenic | -2.271 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.8594 | likely_pathogenic | 0.8239 | pathogenic | -3.395 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.691 | likely_pathogenic | 0.6289 | pathogenic | -2.929 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9955 | likely_pathogenic | 0.9929 | pathogenic | -2.22 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9621 | likely_pathogenic | 0.9509 | pathogenic | -1.828 | 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.