Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33860 | 101803;101804;101805 | chr2:178535037;178535036;178535035 | chr2:179399764;179399763;179399762 |
| N2AB | 32219 | 96880;96881;96882 | chr2:178535037;178535036;178535035 | chr2:179399764;179399763;179399762 |
| N2A | 31292 | 94099;94100;94101 | chr2:178535037;178535036;178535035 | chr2:179399764;179399763;179399762 |
| N2B | 24795 | 74608;74609;74610 | chr2:178535037;178535036;178535035 | chr2:179399764;179399763;179399762 |
| Novex-1 | 24920 | 74983;74984;74985 | chr2:178535037;178535036;178535035 | chr2:179399764;179399763;179399762 |
| Novex-2 | 24987 | 75184;75185;75186 | chr2:178535037;178535036;178535035 | chr2:179399764;179399763;179399762 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: V
- RefSeq wild type transcript codon: GTA
- RefSeq wild type template codon: CAT
- Domain: Kinase-1
- Domain position: 48
- Q(SASA): 0.109
- 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 | rs141082389  |
-0.797 | None | N | None | 0.091 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs141082389 |
-0.797 | None | N | None | 0.091 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| V/I | rs141082389 |
-0.797 | None | N | None | 0.091 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/I | rs141082389 |
-0.797 | None | N | None | 0.091 | None | gnomAD-4.0.0 | 8.05524E-06 | None | None | None | None | N | None | 1.19958E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09791E-05 | 4.80154E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.751 | likely_pathogenic | 0.7636 | pathogenic | -2.225 | Highly Destabilizing | None | None | None | None | N | 0.47793054 | None | None | N |
| V/C | 0.9474 | likely_pathogenic | 0.9419 | pathogenic | -1.742 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9883 | likely_pathogenic | 0.9857 | pathogenic | -2.939 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.9562 | likely_pathogenic | 0.9528 | pathogenic | -2.724 | Highly Destabilizing | None | None | None | None | N | 0.455669342 | None | None | N |
| V/F | 0.8045 | likely_pathogenic | 0.7524 | pathogenic | -1.416 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.8524 | likely_pathogenic | 0.8483 | pathogenic | -2.765 | Highly Destabilizing | None | None | None | None | N | 0.468506905 | None | None | N |
| V/H | 0.9882 | likely_pathogenic | 0.9843 | pathogenic | -2.59 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1502 | likely_benign | 0.1429 | benign | -0.716 | Destabilizing | None | None | None | None | N | 0.425328207 | None | None | N |
| V/K | 0.9708 | likely_pathogenic | 0.9651 | pathogenic | -2.116 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.6078 | likely_pathogenic | 0.5651 | pathogenic | -0.716 | Destabilizing | None | None | None | None | N | 0.447818277 | None | None | N |
| V/M | 0.665 | likely_pathogenic | 0.654 | pathogenic | -0.629 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.9702 | likely_pathogenic | 0.967 | pathogenic | -2.443 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9823 | likely_pathogenic | 0.9814 | pathogenic | -1.192 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.9447 | likely_pathogenic | 0.9406 | pathogenic | -2.278 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.9415 | likely_pathogenic | 0.9358 | pathogenic | -1.881 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.9058 | likely_pathogenic | 0.8988 | pathogenic | -3.029 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.8046 | likely_pathogenic | 0.8053 | pathogenic | -2.672 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9936 | likely_pathogenic | 0.9922 | pathogenic | -2.001 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9758 | likely_pathogenic | 0.9675 | pathogenic | -1.611 | 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.