Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 16062 | 48409;48410;48411 | chr2:178616607;178616606;178616605 | chr2:179481334;179481333;179481332 |
N2AB | 14421 | 43486;43487;43488 | chr2:178616607;178616606;178616605 | chr2:179481334;179481333;179481332 |
N2A | 13494 | 40705;40706;40707 | chr2:178616607;178616606;178616605 | chr2:179481334;179481333;179481332 |
N2B | 6997 | 21214;21215;21216 | chr2:178616607;178616606;178616605 | chr2:179481334;179481333;179481332 |
Novex-1 | 7122 | 21589;21590;21591 | chr2:178616607;178616606;178616605 | chr2:179481334;179481333;179481332 |
Novex-2 | 7189 | 21790;21791;21792 | chr2:178616607;178616606;178616605 | chr2:179481334;179481333;179481332 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L/F | None | None | 0.217 | D | 0.453 | 0.105 | 0.379366414296 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L/A | 0.8856 | likely_pathogenic | 0.9193 | pathogenic | -2.263 | Highly Destabilizing | 0.996 | D | 0.769 | deleterious | None | None | None | None | N |
L/C | 0.7828 | likely_pathogenic | 0.856 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
L/D | 0.9959 | likely_pathogenic | 0.997 | pathogenic | -2.57 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
L/E | 0.9807 | likely_pathogenic | 0.987 | pathogenic | -2.329 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
L/F | 0.3006 | likely_benign | 0.3402 | ambiguous | -1.254 | Destabilizing | 0.217 | N | 0.453 | neutral | D | 0.528851179 | None | None | N |
L/G | 0.9659 | likely_pathogenic | 0.9757 | pathogenic | -2.828 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
L/H | 0.956 | likely_pathogenic | 0.9711 | pathogenic | -2.42 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
L/I | 0.1381 | likely_benign | 0.1463 | benign | -0.635 | Destabilizing | 0.992 | D | 0.725 | prob.delet. | None | None | None | None | N |
L/K | 0.963 | likely_pathogenic | 0.9774 | pathogenic | -1.705 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
L/M | 0.2047 | likely_benign | 0.2282 | benign | -0.689 | Destabilizing | 0.999 | D | 0.79 | deleterious | D | 0.63432653 | None | None | N |
L/N | 0.9757 | likely_pathogenic | 0.982 | pathogenic | -2.056 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
L/P | 0.8202 | likely_pathogenic | 0.8736 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
L/Q | 0.9342 | likely_pathogenic | 0.957 | pathogenic | -1.872 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
L/R | 0.9396 | likely_pathogenic | 0.9608 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
L/S | 0.9776 | likely_pathogenic | 0.9844 | pathogenic | -2.744 | Highly Destabilizing | 0.999 | D | 0.852 | deleterious | D | 0.68196584 | None | None | N |
L/T | 0.888 | likely_pathogenic | 0.9187 | pathogenic | -2.35 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
L/V | 0.1896 | likely_benign | 0.2149 | benign | -1.158 | Destabilizing | 0.989 | D | 0.725 | prob.delet. | N | 0.492123082 | None | None | N |
L/W | 0.7896 | likely_pathogenic | 0.8344 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.743489538 | None | None | N |
L/Y | 0.8586 | likely_pathogenic | 0.8979 | pathogenic | -1.349 | Destabilizing | 0.995 | D | 0.825 | 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.