Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33931 | 102016;102017;102018 | chr2:178534824;178534823;178534822 | chr2:179399551;179399550;179399549 |
| N2AB | 32290 | 97093;97094;97095 | chr2:178534824;178534823;178534822 | chr2:179399551;179399550;179399549 |
| N2A | 31363 | 94312;94313;94314 | chr2:178534824;178534823;178534822 | chr2:179399551;179399550;179399549 |
| N2B | 24866 | 74821;74822;74823 | chr2:178534824;178534823;178534822 | chr2:179399551;179399550;179399549 |
| Novex-1 | 24991 | 75196;75197;75198 | chr2:178534824;178534823;178534822 | chr2:179399551;179399550;179399549 |
| Novex-2 | 25058 | 75397;75398;75399 | chr2:178534824;178534823;178534822 | chr2:179399551;179399550;179399549 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: H
- RefSeq wild type transcript codon: CAC
- RefSeq wild type template codon: GTG
- Domain: Kinase-1
- Domain position: 119
- Q(SASA): 0.126
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Y | rs746021065  |
-0.117 | None | D | None | 0.675 | 0.774586832184 | 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 |
| H/Y | rs746021065 |
-0.117 | None | D | None | 0.675 | 0.774586832184 | gnomAD-4.0.0 | 1.60008E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85829E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9432 | likely_pathogenic | 0.9187 | pathogenic | -1.312 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.8191 | likely_pathogenic | 0.7444 | pathogenic | -1.062 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.8956 | likely_pathogenic | 0.845 | pathogenic | -1.396 | Destabilizing | None | None | None | None | D | 0.638429109 | None | None | N |
| H/E | 0.9179 | likely_pathogenic | 0.8765 | pathogenic | -1.303 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.9072 | likely_pathogenic | 0.8818 | pathogenic | -0.388 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.9376 | likely_pathogenic | 0.9072 | pathogenic | -1.621 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.9637 | likely_pathogenic | 0.9483 | pathogenic | -0.454 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.8838 | likely_pathogenic | 0.8467 | pathogenic | -1.389 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.7644 | likely_pathogenic | 0.6936 | pathogenic | -0.454 | Destabilizing | None | None | None | None | D | 0.638227304 | None | None | N |
| H/M | 0.9692 | likely_pathogenic | 0.9584 | pathogenic | -0.648 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.7112 | likely_pathogenic | 0.635 | pathogenic | -1.472 | Destabilizing | None | None | None | None | D | 0.612890997 | None | None | N |
| H/P | 0.9427 | likely_pathogenic | 0.9068 | pathogenic | -0.723 | Destabilizing | None | None | None | None | D | 0.654650274 | None | None | N |
| H/Q | 0.8255 | likely_pathogenic | 0.7619 | pathogenic | -1.249 | Destabilizing | None | None | None | None | D | 0.6010506 | None | None | N |
| H/R | 0.7339 | likely_pathogenic | 0.6467 | pathogenic | -1.452 | Destabilizing | None | None | None | None | D | 0.596871636 | None | None | N |
| H/S | 0.8802 | likely_pathogenic | 0.8407 | pathogenic | -1.607 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.96 | likely_pathogenic | 0.9447 | pathogenic | -1.423 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.9527 | likely_pathogenic | 0.933 | pathogenic | -0.723 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.8829 | likely_pathogenic | 0.8514 | pathogenic | -0.216 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.6258 | likely_pathogenic | 0.5412 | ambiguous | -0.009 | Destabilizing | None | None | None | None | D | 0.636411066 | 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.