Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 28842 | 86749;86750;86751 | chr2:178559608;178559607;178559606 | chr2:179424335;179424334;179424333 |
N2AB | 27201 | 81826;81827;81828 | chr2:178559608;178559607;178559606 | chr2:179424335;179424334;179424333 |
N2A | 26274 | 79045;79046;79047 | chr2:178559608;178559607;178559606 | chr2:179424335;179424334;179424333 |
N2B | 19777 | 59554;59555;59556 | chr2:178559608;178559607;178559606 | chr2:179424335;179424334;179424333 |
Novex-1 | 19902 | 59929;59930;59931 | chr2:178559608;178559607;178559606 | chr2:179424335;179424334;179424333 |
Novex-2 | 19969 | 60130;60131;60132 | chr2:178559608;178559607;178559606 | chr2:179424335;179424334;179424333 |
Novex-3 | None | None | chr2:None | chr2:None |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/L | None | None | 0.997 | D | 0.754 | 0.698 | 0.798602079453 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/A | 0.9732 | likely_pathogenic | 0.9771 | pathogenic | -2.066 | Highly Destabilizing | 0.999 | D | 0.741 | deleterious | D | 0.618518335 | None | None | N |
V/C | 0.9907 | likely_pathogenic | 0.9919 | pathogenic | -1.843 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
V/D | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -2.504 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.619123748 | None | None | N |
V/E | 0.9956 | likely_pathogenic | 0.9965 | pathogenic | -2.417 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
V/F | 0.9813 | likely_pathogenic | 0.9832 | pathogenic | -1.506 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.618518335 | None | None | N |
V/G | 0.9697 | likely_pathogenic | 0.9757 | pathogenic | -2.472 | Highly Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.619123748 | None | None | N |
V/H | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.991 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
V/I | 0.1708 | likely_benign | 0.1698 | benign | -0.995 | Destabilizing | 0.997 | D | 0.725 | prob.delet. | N | 0.509042456 | None | None | N |
V/K | 0.9976 | likely_pathogenic | 0.998 | pathogenic | -1.767 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
V/L | 0.955 | likely_pathogenic | 0.9575 | pathogenic | -0.995 | Destabilizing | 0.997 | D | 0.754 | deleterious | D | 0.616500292 | None | None | N |
V/M | 0.9525 | likely_pathogenic | 0.9563 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
V/N | 0.9907 | likely_pathogenic | 0.9932 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
V/P | 0.9962 | likely_pathogenic | 0.9966 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
V/Q | 0.997 | likely_pathogenic | 0.9976 | pathogenic | -1.919 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
V/R | 0.9957 | likely_pathogenic | 0.9964 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
V/S | 0.9844 | likely_pathogenic | 0.9885 | pathogenic | -2.416 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
V/T | 0.9584 | likely_pathogenic | 0.9685 | pathogenic | -2.208 | Highly Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
V/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.804 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
V/Y | 0.9969 | likely_pathogenic | 0.9973 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.84 | deleterious | 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.