Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 15352 | 46279;46280;46281 | chr2:178620467;178620466;178620465 | chr2:179485194;179485193;179485192 |
N2AB | 13711 | 41356;41357;41358 | chr2:178620467;178620466;178620465 | chr2:179485194;179485193;179485192 |
N2A | 12784 | 38575;38576;38577 | chr2:178620467;178620466;178620465 | chr2:179485194;179485193;179485192 |
N2B | 6287 | 19084;19085;19086 | chr2:178620467;178620466;178620465 | chr2:179485194;179485193;179485192 |
Novex-1 | 6412 | 19459;19460;19461 | chr2:178620467;178620466;178620465 | chr2:179485194;179485193;179485192 |
Novex-2 | 6479 | 19660;19661;19662 | chr2:178620467;178620466;178620465 | chr2:179485194;179485193;179485192 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
D/G | rs769556979 | -0.66 | 1.0 | D | 0.659 | 0.564 | 0.43046518545 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.58E-05 | 0 |
D/G | rs769556979 | -0.66 | 1.0 | D | 0.659 | 0.564 | 0.43046518545 | gnomAD-4.0.0 | 7.97123E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43201E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
D/A | 0.4565 | ambiguous | 0.4701 | ambiguous | -0.398 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | D | 0.67960176 | None | None | N |
D/C | 0.8468 | likely_pathogenic | 0.8857 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
D/E | 0.2791 | likely_benign | 0.3267 | benign | -0.423 | Destabilizing | 1.0 | D | 0.425 | neutral | N | 0.504891659 | None | None | N |
D/F | 0.8213 | likely_pathogenic | 0.8463 | pathogenic | -0.205 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
D/G | 0.4448 | ambiguous | 0.4349 | ambiguous | -0.651 | Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.561011047 | None | None | N |
D/H | 0.5633 | ambiguous | 0.5912 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.669 | neutral | D | 0.682715188 | None | None | N |
D/I | 0.6267 | likely_pathogenic | 0.685 | pathogenic | 0.237 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
D/K | 0.6835 | likely_pathogenic | 0.6977 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
D/L | 0.68 | likely_pathogenic | 0.6989 | pathogenic | 0.237 | Stabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
D/M | 0.8407 | likely_pathogenic | 0.8664 | pathogenic | 0.409 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
D/N | 0.217 | likely_benign | 0.2149 | benign | -0.455 | Destabilizing | 1.0 | D | 0.639 | neutral | D | 0.599212617 | None | None | N |
D/P | 0.968 | likely_pathogenic | 0.9672 | pathogenic | 0.049 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
D/Q | 0.5861 | likely_pathogenic | 0.6143 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
D/R | 0.7184 | likely_pathogenic | 0.7365 | pathogenic | -0.018 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
D/S | 0.2802 | likely_benign | 0.2832 | benign | -0.648 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
D/T | 0.5097 | ambiguous | 0.5422 | ambiguous | -0.462 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
D/V | 0.4601 | ambiguous | 0.5151 | ambiguous | 0.049 | Stabilizing | 1.0 | D | 0.756 | deleterious | D | 0.642347882 | None | None | N |
D/W | 0.9454 | likely_pathogenic | 0.9556 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
D/Y | 0.4856 | ambiguous | 0.495 | ambiguous | -0.002 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.682813392 | 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.