Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33880 | 101863;101864;101865 | chr2:178534977;178534976;178534975 | chr2:179399704;179399703;179399702 |
| N2AB | 32239 | 96940;96941;96942 | chr2:178534977;178534976;178534975 | chr2:179399704;179399703;179399702 |
| N2A | 31312 | 94159;94160;94161 | chr2:178534977;178534976;178534975 | chr2:179399704;179399703;179399702 |
| N2B | 24815 | 74668;74669;74670 | chr2:178534977;178534976;178534975 | chr2:179399704;179399703;179399702 |
| Novex-1 | 24940 | 75043;75044;75045 | chr2:178534977;178534976;178534975 | chr2:179399704;179399703;179399702 |
| Novex-2 | 25007 | 75244;75245;75246 | chr2:178534977;178534976;178534975 | chr2:179399704;179399703;179399702 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAA
- RefSeq wild type template codon: CTT
- Domain: Kinase-1
- Domain position: 68
- Q(SASA): 0.143
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs1690780313  |
None | None | N | None | 0.512 | 0.313818047136 | gnomAD-4.0.0 | 1.36875E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79897E-06 | 0 | 0 |
| E/Q | None | None | None | N | None | 0.308 | 0.331365685468 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.6154 | likely_pathogenic | 0.5653 | pathogenic | 0.046 | Stabilizing | None | None | None | None | N | 0.480144126 | None | None | N |
| E/C | 0.9699 | likely_pathogenic | 0.9678 | pathogenic | -0.12 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.4823 | ambiguous | 0.4486 | ambiguous | -1.167 | Destabilizing | None | None | None | None | N | 0.4199196 | None | None | N |
| E/F | 0.9838 | likely_pathogenic | 0.9784 | pathogenic | 0.943 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.5937 | likely_pathogenic | 0.5483 | ambiguous | -0.365 | Destabilizing | None | None | None | None | N | 0.453549384 | None | None | N |
| E/H | 0.89 | likely_pathogenic | 0.8688 | pathogenic | 0.933 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.9375 | likely_pathogenic | 0.9238 | pathogenic | 1.172 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.6112 | likely_pathogenic | 0.5647 | pathogenic | 0.111 | Stabilizing | None | None | None | None | N | 0.499962038 | None | None | N |
| E/L | 0.9349 | likely_pathogenic | 0.922 | pathogenic | 1.172 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.9347 | likely_pathogenic | 0.9276 | pathogenic | 1.275 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.8143 | likely_pathogenic | 0.7735 | pathogenic | -0.754 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9789 | likely_pathogenic | 0.979 | pathogenic | 0.82 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.4044 | ambiguous | 0.3784 | ambiguous | -0.505 | Destabilizing | None | None | None | None | N | 0.505522573 | None | None | N |
| E/R | 0.724 | likely_pathogenic | 0.6775 | pathogenic | 0.418 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.6687 | likely_pathogenic | 0.6238 | pathogenic | -1.008 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.7796 | likely_pathogenic | 0.7507 | pathogenic | -0.622 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.8285 | likely_pathogenic | 0.8062 | pathogenic | 0.82 | Stabilizing | None | None | None | None | N | 0.47272364 | None | None | N |
| E/W | 0.9945 | likely_pathogenic | 0.9933 | pathogenic | 1.164 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.9655 | likely_pathogenic | 0.9578 | pathogenic | 1.256 | Stabilizing | 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.