Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20749 | 62470;62471;62472 | chr2:178589480;178589479;178589478 | chr2:179454207;179454206;179454205 |
| N2AB | 19108 | 57547;57548;57549 | chr2:178589480;178589479;178589478 | chr2:179454207;179454206;179454205 |
| N2A | 18181 | 54766;54767;54768 | chr2:178589480;178589479;178589478 | chr2:179454207;179454206;179454205 |
| N2B | 11684 | 35275;35276;35277 | chr2:178589480;178589479;178589478 | chr2:179454207;179454206;179454205 |
| Novex-1 | 11809 | 35650;35651;35652 | chr2:178589480;178589479;178589478 | chr2:179454207;179454206;179454205 |
| Novex-2 | 11876 | 35851;35852;35853 | chr2:178589480;178589479;178589478 | chr2:179454207;179454206;179454205 |
| Novex-3 | None | None | chr2:None | chr2:None |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs762072522  |
-0.311 | 0.997 | D | 0.773 | 0.376 | 0.318540980066 | gnomAD-2.1.1 | 4.03E-05 | None | None | None | None | I | None | 0 | 2.32329E-04 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/D | rs762072522 |
-0.311 | 0.997 | D | 0.773 | 0.376 | 0.318540980066 | gnomAD-4.0.0 | 1.28154E-05 | None | None | None | None | I | None | 0 | 1.18696E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 4.02069E-05 | 0 |
| G/S | rs769732478 |
-0.159 | 0.955 | N | 0.75 | 0.336 | 0.307332253619 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/S | rs769732478 |
-0.159 | 0.955 | N | 0.75 | 0.336 | 0.307332253619 | gnomAD-4.0.0 | 7.52797E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89495E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1945 | likely_benign | 0.1555 | benign | -0.37 | Destabilizing | 0.117 | N | 0.466 | neutral | N | 0.399134188 | None | None | I |
| G/C | 0.618 | likely_pathogenic | 0.5495 | ambiguous | -0.871 | Destabilizing | 0.413 | N | 0.638 | neutral | N | 0.499146466 | None | None | I |
| G/D | 0.9423 | likely_pathogenic | 0.8982 | pathogenic | -0.927 | Destabilizing | 0.997 | D | 0.773 | deleterious | D | 0.522367256 | None | None | I |
| G/E | 0.9059 | likely_pathogenic | 0.833 | pathogenic | -1.093 | Destabilizing | 0.995 | D | 0.827 | deleterious | None | None | None | None | I |
| G/F | 0.9172 | likely_pathogenic | 0.8848 | pathogenic | -1.065 | Destabilizing | 0.999 | D | 0.846 | deleterious | None | None | None | None | I |
| G/H | 0.9576 | likely_pathogenic | 0.924 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/I | 0.7216 | likely_pathogenic | 0.6554 | pathogenic | -0.482 | Destabilizing | 0.995 | D | 0.831 | deleterious | None | None | None | None | I |
| G/K | 0.9545 | likely_pathogenic | 0.9211 | pathogenic | -1.0 | Destabilizing | 0.995 | D | 0.827 | deleterious | None | None | None | None | I |
| G/L | 0.8725 | likely_pathogenic | 0.8154 | pathogenic | -0.482 | Destabilizing | 0.995 | D | 0.778 | deleterious | None | None | None | None | I |
| G/M | 0.8519 | likely_pathogenic | 0.7858 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/N | 0.8891 | likely_pathogenic | 0.8245 | pathogenic | -0.579 | Destabilizing | 0.998 | D | 0.805 | deleterious | None | None | None | None | I |
| G/P | 0.9934 | likely_pathogenic | 0.9909 | pathogenic | -0.411 | Destabilizing | 0.998 | D | 0.847 | deleterious | None | None | None | None | I |
| G/Q | 0.919 | likely_pathogenic | 0.8642 | pathogenic | -0.916 | Destabilizing | 0.999 | D | 0.856 | deleterious | None | None | None | None | I |
| G/R | 0.9105 | likely_pathogenic | 0.8538 | pathogenic | -0.457 | Destabilizing | 0.997 | D | 0.848 | deleterious | D | 0.522713973 | None | None | I |
| G/S | 0.4428 | ambiguous | 0.3515 | ambiguous | -0.688 | Destabilizing | 0.955 | D | 0.75 | deleterious | N | 0.476826967 | None | None | I |
| G/T | 0.7013 | likely_pathogenic | 0.6077 | pathogenic | -0.796 | Destabilizing | 0.995 | D | 0.801 | deleterious | None | None | None | None | I |
| G/V | 0.5598 | ambiguous | 0.4979 | ambiguous | -0.411 | Destabilizing | 0.987 | D | 0.778 | deleterious | N | 0.440327449 | None | None | I |
| G/W | 0.922 | likely_pathogenic | 0.8858 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/Y | 0.9009 | likely_pathogenic | 0.8564 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
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.