Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33897 | 101914;101915;101916 | chr2:178534926;178534925;178534924 | chr2:179399653;179399652;179399651 |
| N2AB | 32256 | 96991;96992;96993 | chr2:178534926;178534925;178534924 | chr2:179399653;179399652;179399651 |
| N2A | 31329 | 94210;94211;94212 | chr2:178534926;178534925;178534924 | chr2:179399653;179399652;179399651 |
| N2B | 24832 | 74719;74720;74721 | chr2:178534926;178534925;178534924 | chr2:179399653;179399652;179399651 |
| Novex-1 | 24957 | 75094;75095;75096 | chr2:178534926;178534925;178534924 | chr2:179399653;179399652;179399651 |
| Novex-2 | 25024 | 75295;75296;75297 | chr2:178534926;178534925;178534924 | chr2:179399653;179399652;179399651 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: G
- RefSeq wild type transcript codon: GGA
- RefSeq wild type template codon: CCT
- Domain: Kinase-1
- Domain position: 85
- Q(SASA): 0.0857
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/V | None | None | None | D | None | 0.704 | 0.637269506179 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8308 | likely_pathogenic | 0.7814 | pathogenic | -0.805 | Destabilizing | None | None | None | None | N | 0.484278345 | None | None | N |
| G/C | 0.9352 | likely_pathogenic | 0.9223 | pathogenic | -1.253 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/D | 0.9735 | likely_pathogenic | 0.9655 | pathogenic | -1.354 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/E | 0.979 | likely_pathogenic | 0.9714 | pathogenic | -1.338 | Destabilizing | None | None | None | None | N | 0.489051285 | None | None | N |
| G/F | 0.9941 | likely_pathogenic | 0.992 | pathogenic | -0.907 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/H | 0.9921 | likely_pathogenic | 0.9905 | pathogenic | -1.283 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/I | 0.9884 | likely_pathogenic | 0.9836 | pathogenic | -0.256 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/K | 0.9924 | likely_pathogenic | 0.9904 | pathogenic | -1.024 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/L | 0.9901 | likely_pathogenic | 0.9862 | pathogenic | -0.256 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/M | 0.9937 | likely_pathogenic | 0.9917 | pathogenic | -0.527 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/N | 0.9792 | likely_pathogenic | 0.9767 | pathogenic | -0.923 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/P | 0.9957 | likely_pathogenic | 0.994 | pathogenic | -0.399 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Q | 0.9834 | likely_pathogenic | 0.9798 | pathogenic | -1.033 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/R | 0.9762 | likely_pathogenic | 0.9686 | pathogenic | -0.892 | Destabilizing | None | None | None | None | N | 0.490532542 | None | None | N |
| G/S | 0.7641 | likely_pathogenic | 0.732 | pathogenic | -1.281 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/T | 0.9641 | likely_pathogenic | 0.954 | pathogenic | -1.175 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/V | 0.9737 | likely_pathogenic | 0.9626 | pathogenic | -0.399 | Destabilizing | None | None | None | None | D | 0.530882109 | None | None | N |
| G/W | 0.989 | likely_pathogenic | 0.9856 | pathogenic | -1.282 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Y | 0.9917 | likely_pathogenic | 0.9893 | pathogenic | -0.83 | 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.