Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 67 | 424;425;426 | chr2:178802234;178802233;178802232 | chr2:179666961;179666960;179666959 |
| N2AB | 67 | 424;425;426 | chr2:178802234;178802233;178802232 | chr2:179666961;179666960;179666959 |
| N2A | 67 | 424;425;426 | chr2:178802234;178802233;178802232 | chr2:179666961;179666960;179666959 |
| N2B | 67 | 424;425;426 | chr2:178802234;178802233;178802232 | chr2:179666961;179666960;179666959 |
| Novex-1 | 67 | 424;425;426 | chr2:178802234;178802233;178802232 | chr2:179666961;179666960;179666959 |
| Novex-2 | 67 | 424;425;426 | chr2:178802234;178802233;178802232 | chr2:179666961;179666960;179666959 |
| Novex-3 | 67 | 424;425;426 | chr2:178802234;178802233;178802232 | chr2:179666961;179666960;179666959 |
Information
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/N | rs952685437  |
None | 1.0 | D | 0.911 | 0.879 | 0.924420087009 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | -0.616(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| I/N | rs952685437 |
None | 1.0 | D | 0.911 | 0.879 | 0.924420087009 | gnomAD-4.0.0 | 1.31546E-05 | None | None | None | -0.616(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.94126E-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 | 0.9832 | likely_pathogenic | 0.9844 | pathogenic | -2.779 | Highly Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | -0.341(TCAP) | N |
| I/C | 0.9967 | likely_pathogenic | 0.9961 | pathogenic | -2.338 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | -0.945(TCAP) | N |
| I/D | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -2.893 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | -0.845(TCAP) | N |
| I/E | 0.9966 | likely_pathogenic | 0.9967 | pathogenic | -2.687 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | -1.007(TCAP) | N |
| I/F | 0.5819 | likely_pathogenic | 0.5889 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.672942278 | None | -0.416(TCAP) | N |
| I/G | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -3.326 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | -0.252(TCAP) | N |
| I/H | 0.9929 | likely_pathogenic | 0.9925 | pathogenic | -2.652 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | -0.021(TCAP) | N |
| I/K | 0.9929 | likely_pathogenic | 0.9924 | pathogenic | -2.275 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | -1.023(TCAP) | N |
| I/L | 0.2775 | likely_benign | 0.2815 | benign | -1.21 | Destabilizing | 0.008 | N | 0.292 | neutral | D | 0.547786275 | None | -0.67(TCAP) | N |
| I/M | 0.4148 | ambiguous | 0.4292 | ambiguous | -1.225 | Destabilizing | 0.988 | D | 0.711 | prob.delet. | D | 0.736496348 | None | -0.852(TCAP) | N |
| I/N | 0.9778 | likely_pathogenic | 0.9777 | pathogenic | -2.577 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.838791756 | None | -0.616(TCAP) | N |
| I/P | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -1.712 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | -0.551(TCAP) | N |
| I/Q | 0.9916 | likely_pathogenic | 0.9918 | pathogenic | -2.475 | Highly Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | -0.699(TCAP) | N |
| I/R | 0.9888 | likely_pathogenic | 0.9878 | pathogenic | -1.879 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | -1.0(TCAP) | N |
| I/S | 0.9799 | likely_pathogenic | 0.9809 | pathogenic | -3.342 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.838791756 | None | -0.295(TCAP) | N |
| I/T | 0.9842 | likely_pathogenic | 0.9851 | pathogenic | -2.982 | Highly Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.770688415 | None | -0.453(TCAP) | N |
| I/V | 0.2492 | likely_benign | 0.2449 | benign | -1.712 | Destabilizing | 0.81 | D | 0.351 | neutral | D | 0.572725674 | None | -0.551(TCAP) | N |
| I/W | 0.9922 | likely_pathogenic | 0.992 | pathogenic | -2.061 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | -0.713(TCAP) | N |
| I/Y | 0.9657 | likely_pathogenic | 0.9637 | pathogenic | -1.819 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | -0.454(TCAP) | 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.