Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 1750 | 5473;5474;5475 | chr2:178776616;178776615;178776614 | chr2:179641343;179641342;179641341 |
N2AB | 1750 | 5473;5474;5475 | chr2:178776616;178776615;178776614 | chr2:179641343;179641342;179641341 |
N2A | 1750 | 5473;5474;5475 | chr2:178776616;178776615;178776614 | chr2:179641343;179641342;179641341 |
N2B | 1704 | 5335;5336;5337 | chr2:178776616;178776615;178776614 | chr2:179641343;179641342;179641341 |
Novex-1 | 1704 | 5335;5336;5337 | chr2:178776616;178776615;178776614 | chr2:179641343;179641342;179641341 |
Novex-2 | 1704 | 5335;5336;5337 | chr2:178776616;178776615;178776614 | chr2:179641343;179641342;179641341 |
Novex-3 | 1750 | 5473;5474;5475 | chr2:178776616;178776615;178776614 | chr2:179641343;179641342;179641341 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
R/S | rs924534786 | None | 1.0 | D | 0.751 | 0.526 | 0.604474940213 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
R/S | rs924534786 | None | 1.0 | D | 0.751 | 0.526 | 0.604474940213 | gnomAD-4.0.0 | 6.5703E-06 | None | None | None | None | I | None | 2.41243E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
R/A | 0.9828 | likely_pathogenic | 0.9816 | pathogenic | -1.365 | Destabilizing | 0.999 | D | 0.534 | neutral | None | None | None | None | I |
R/C | 0.9308 | likely_pathogenic | 0.9284 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
R/D | 0.9841 | likely_pathogenic | 0.9837 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
R/E | 0.9479 | likely_pathogenic | 0.9481 | pathogenic | -0.154 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | I |
R/F | 0.989 | likely_pathogenic | 0.9891 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
R/G | 0.9475 | likely_pathogenic | 0.9505 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.683744564 | None | None | I |
R/H | 0.6044 | likely_pathogenic | 0.6034 | pathogenic | -1.775 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
R/I | 0.9673 | likely_pathogenic | 0.9667 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
R/K | 0.6797 | likely_pathogenic | 0.7044 | pathogenic | -0.865 | Destabilizing | 0.997 | D | 0.443 | neutral | D | 0.581133395 | None | None | I |
R/L | 0.9364 | likely_pathogenic | 0.9349 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
R/M | 0.9833 | likely_pathogenic | 0.9838 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.771986523 | None | None | I |
R/N | 0.9692 | likely_pathogenic | 0.9657 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
R/P | 0.9867 | likely_pathogenic | 0.9884 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
R/Q | 0.6439 | likely_pathogenic | 0.6411 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
R/S | 0.9804 | likely_pathogenic | 0.9786 | pathogenic | -1.649 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.708718949 | None | None | I |
R/T | 0.972 | likely_pathogenic | 0.9684 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.732777833 | None | None | I |
R/V | 0.974 | likely_pathogenic | 0.9731 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
R/W | 0.9243 | likely_pathogenic | 0.9198 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.805744296 | None | None | I |
R/Y | 0.9621 | likely_pathogenic | 0.9605 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.749 | 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.