Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33962 | 102109;102110;102111 | chr2:178534731;178534730;178534729 | chr2:179399458;179399457;179399456 |
| N2AB | 32321 | 97186;97187;97188 | chr2:178534731;178534730;178534729 | chr2:179399458;179399457;179399456 |
| N2A | 31394 | 94405;94406;94407 | chr2:178534731;178534730;178534729 | chr2:179399458;179399457;179399456 |
| N2B | 24897 | 74914;74915;74916 | chr2:178534731;178534730;178534729 | chr2:179399458;179399457;179399456 |
| Novex-1 | 25022 | 75289;75290;75291 | chr2:178534731;178534730;178534729 | chr2:179399458;179399457;179399456 |
| Novex-2 | 25089 | 75490;75491;75492 | chr2:178534731;178534730;178534729 | chr2:179399458;179399457;179399456 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Q
- RefSeq wild type transcript codon: CAA
- RefSeq wild type template codon: GTT
- Domain: Kinase-1
- Domain position: 150
- Q(SASA): 0.1069
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | None | None | None | N | None | 0.444 | 0.307966526162 | gnomAD-4.0.0 | 1.59119E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.4108E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4756 | ambiguous | 0.4837 | ambiguous | -1.156 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.9525 | likely_pathogenic | 0.9502 | pathogenic | -0.928 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.8179 | likely_pathogenic | 0.8069 | pathogenic | -2.467 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.2376 | likely_benign | 0.2312 | benign | -2.147 | Highly Destabilizing | None | None | None | None | N | 0.434682061 | None | None | N |
| Q/F | 0.9187 | likely_pathogenic | 0.9075 | pathogenic | -0.61 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.6481 | likely_pathogenic | 0.6453 | pathogenic | -1.613 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.7196 | likely_pathogenic | 0.712 | pathogenic | -1.373 | Destabilizing | None | None | None | None | N | 0.44232011 | None | None | N |
| Q/I | 0.7349 | likely_pathogenic | 0.7411 | pathogenic | 0.101 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.3525 | ambiguous | 0.3464 | ambiguous | -0.774 | Destabilizing | None | None | None | None | N | 0.442493468 | None | None | N |
| Q/L | 0.3859 | ambiguous | 0.4247 | ambiguous | 0.101 | Stabilizing | None | None | None | None | N | 0.307130891 | None | None | N |
| Q/M | 0.5491 | ambiguous | 0.5586 | ambiguous | 0.186 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.5554 | ambiguous | 0.5699 | pathogenic | -1.817 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.6617 | likely_pathogenic | 0.6378 | pathogenic | -0.293 | Destabilizing | None | None | None | None | N | 0.453710539 | None | None | N |
| Q/R | 0.4643 | ambiguous | 0.4324 | ambiguous | -1.099 | Destabilizing | None | None | None | None | N | 0.472122942 | None | None | N |
| Q/S | 0.4905 | ambiguous | 0.4913 | ambiguous | -1.973 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.5024 | ambiguous | 0.5052 | ambiguous | -1.471 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.604 | likely_pathogenic | 0.6184 | pathogenic | -0.293 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.9602 | likely_pathogenic | 0.9482 | pathogenic | -0.854 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.9028 | likely_pathogenic | 0.8913 | pathogenic | -0.415 | 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.