Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33904 | 101935;101936;101937 | chr2:178534905;178534904;178534903 | chr2:179399632;179399631;179399630 |
| N2AB | 32263 | 97012;97013;97014 | chr2:178534905;178534904;178534903 | chr2:179399632;179399631;179399630 |
| N2A | 31336 | 94231;94232;94233 | chr2:178534905;178534904;178534903 | chr2:179399632;179399631;179399630 |
| N2B | 24839 | 74740;74741;74742 | chr2:178534905;178534904;178534903 | chr2:179399632;179399631;179399630 |
| Novex-1 | 24964 | 75115;75116;75117 | chr2:178534905;178534904;178534903 | chr2:179399632;179399631;179399630 |
| Novex-2 | 25031 | 75316;75317;75318 | chr2:178534905;178534904;178534903 | chr2:179399632;179399631;179399630 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATT
- RefSeq wild type template codon: TAA
- Domain: Kinase-1
- Domain position: 92
- Q(SASA): 0.0965
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs748029947  |
-2.715 | None | N | None | 0.59 | 0.75268763983 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| I/T | rs748029947 |
-2.715 | None | N | None | 0.59 | 0.75268763983 | gnomAD-4.0.0 | 7.54692E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99463E-06 | 1.15939E-05 | 0 |
| I/V | None | None | None | N | None | 0.138 | 0.496693547531 | gnomAD-4.0.0 | 1.08029E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18125E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8587 | likely_pathogenic | 0.8031 | pathogenic | -2.571 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9306 | likely_pathogenic | 0.8909 | pathogenic | -1.952 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9872 | likely_pathogenic | 0.9752 | pathogenic | -2.907 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9541 | likely_pathogenic | 0.9204 | pathogenic | -2.667 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.6447 | likely_pathogenic | 0.5061 | ambiguous | -1.558 | Destabilizing | None | None | None | None | N | 0.51093762 | None | None | N |
| I/G | 0.9701 | likely_pathogenic | 0.948 | pathogenic | -3.141 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9663 | likely_pathogenic | 0.9333 | pathogenic | -2.695 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.9171 | likely_pathogenic | 0.8592 | pathogenic | -1.975 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.1641 | likely_benign | 0.1241 | benign | -0.915 | Destabilizing | None | None | None | None | N | 0.413842642 | None | None | N |
| I/M | 0.1972 | likely_benign | 0.1508 | benign | -0.924 | Destabilizing | None | None | None | None | N | 0.517786234 | None | None | N |
| I/N | 0.8701 | likely_pathogenic | 0.7817 | pathogenic | -2.356 | Highly Destabilizing | None | None | None | None | N | 0.502691991 | None | None | N |
| I/P | 0.9843 | likely_pathogenic | 0.975 | pathogenic | -1.448 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.9167 | likely_pathogenic | 0.8601 | pathogenic | -2.178 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.889 | likely_pathogenic | 0.819 | pathogenic | -1.757 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.8813 | likely_pathogenic | 0.8185 | pathogenic | -3.067 | Highly Destabilizing | None | None | None | None | N | 0.510578803 | None | None | N |
| I/T | 0.8416 | likely_pathogenic | 0.7517 | pathogenic | -2.673 | Highly Destabilizing | None | None | None | None | N | 0.494196068 | None | None | N |
| I/V | 0.227 | likely_benign | 0.1711 | benign | -1.448 | Destabilizing | None | None | None | None | N | 0.483516158 | None | None | N |
| I/W | 0.9661 | likely_pathogenic | 0.9327 | pathogenic | -1.992 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.9118 | likely_pathogenic | 0.8576 | pathogenic | -1.694 | 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.