Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 19025 | 57298;57299;57300 | chr2:178598544;178598543;178598542 | chr2:179463271;179463270;179463269 |
N2AB | 17384 | 52375;52376;52377 | chr2:178598544;178598543;178598542 | chr2:179463271;179463270;179463269 |
N2A | 16457 | 49594;49595;49596 | chr2:178598544;178598543;178598542 | chr2:179463271;179463270;179463269 |
N2B | 9960 | 30103;30104;30105 | chr2:178598544;178598543;178598542 | chr2:179463271;179463270;179463269 |
Novex-1 | 10085 | 30478;30479;30480 | chr2:178598544;178598543;178598542 | chr2:179463271;179463270;179463269 |
Novex-2 | 10152 | 30679;30680;30681 | chr2:178598544;178598543;178598542 | chr2:179463271;179463270;179463269 |
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/A | rs762688055 | -2.808 | 0.058 | N | 0.325 | 0.351 | 0.600985507913 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.25818E-04 | None | 0 | None | 0 | 0 | 0 |
V/A | rs762688055 | -2.808 | 0.058 | N | 0.325 | 0.351 | 0.600985507913 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.82298E-04 | None | 0 | 0 | 0 | 0 | 0 |
V/A | rs762688055 | -2.808 | 0.058 | N | 0.325 | 0.351 | 0.600985507913 | gnomAD-4.0.0 | 8.6995E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.46615E-04 | None | 0 | 0 | 1.69677E-06 | 0 | 1.60421E-05 |
V/F | None | None | 0.976 | D | 0.744 | 0.622 | 0.750674329801 | gnomAD-4.0.0 | 6.8647E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6608E-05 |
V/I | rs181957743 | -0.612 | 0.075 | N | 0.251 | 0.129 | None | gnomAD-2.1.1 | 1.70452E-04 | None | None | None | None | N | None | 0 | 1.08244E-03 | None | 0 | 0 | None | 6.85E-05 | None | 0 | 3.93E-05 | 4.25653E-04 |
V/I | rs181957743 | -0.612 | 0.075 | N | 0.251 | 0.129 | None | gnomAD-3.1.2 | 1.11873E-04 | None | None | None | None | N | None | 2.42E-05 | 9.18274E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
V/I | rs181957743 | -0.612 | 0.075 | N | 0.251 | 0.129 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
V/I | rs181957743 | -0.612 | 0.075 | N | 0.251 | 0.129 | None | gnomAD-4.0.0 | 5.84285E-05 | None | None | None | None | N | None | 1.33987E-05 | 1.02072E-03 | None | 0 | 2.24205E-05 | None | 0 | 1.65673E-04 | 1.9514E-05 | 5.58809E-05 | 4.8134E-05 |
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 | 0.5509 | ambiguous | 0.5983 | pathogenic | -2.351 | Highly Destabilizing | 0.058 | N | 0.325 | neutral | N | 0.515308382 | None | None | N |
V/C | 0.9209 | likely_pathogenic | 0.9308 | pathogenic | -1.724 | Destabilizing | 0.998 | D | 0.755 | deleterious | None | None | None | None | N |
V/D | 0.997 | likely_pathogenic | 0.9972 | pathogenic | -3.42 | Highly Destabilizing | 0.971 | D | 0.885 | deleterious | D | 0.538781461 | None | None | N |
V/E | 0.9907 | likely_pathogenic | 0.9895 | pathogenic | -3.1 | Highly Destabilizing | 0.978 | D | 0.839 | deleterious | None | None | None | None | N |
V/F | 0.78 | likely_pathogenic | 0.8115 | pathogenic | -1.394 | Destabilizing | 0.976 | D | 0.744 | deleterious | D | 0.538527972 | None | None | N |
V/G | 0.8962 | likely_pathogenic | 0.9104 | pathogenic | -2.952 | Highly Destabilizing | 0.942 | D | 0.839 | deleterious | D | 0.538781461 | None | None | N |
V/H | 0.9966 | likely_pathogenic | 0.9969 | pathogenic | -2.839 | Highly Destabilizing | 0.998 | D | 0.877 | deleterious | None | None | None | None | N |
V/I | 0.0904 | likely_benign | 0.089 | benign | -0.599 | Destabilizing | 0.075 | N | 0.251 | neutral | N | 0.440525024 | None | None | N |
V/K | 0.9928 | likely_pathogenic | 0.992 | pathogenic | -2.151 | Highly Destabilizing | 0.978 | D | 0.845 | deleterious | None | None | None | None | N |
V/L | 0.492 | ambiguous | 0.4806 | ambiguous | -0.599 | Destabilizing | 0.455 | N | 0.537 | neutral | N | 0.461116514 | None | None | N |
V/M | 0.5999 | likely_pathogenic | 0.6112 | pathogenic | -0.716 | Destabilizing | 0.956 | D | 0.645 | neutral | None | None | None | None | N |
V/N | 0.9909 | likely_pathogenic | 0.9918 | pathogenic | -2.849 | Highly Destabilizing | 0.993 | D | 0.905 | deleterious | None | None | None | None | N |
V/P | 0.963 | likely_pathogenic | 0.9704 | pathogenic | -1.164 | Destabilizing | 0.978 | D | 0.858 | deleterious | None | None | None | None | N |
V/Q | 0.9867 | likely_pathogenic | 0.9866 | pathogenic | -2.496 | Highly Destabilizing | 0.993 | D | 0.887 | deleterious | None | None | None | None | N |
V/R | 0.985 | likely_pathogenic | 0.9835 | pathogenic | -2.211 | Highly Destabilizing | 0.978 | D | 0.899 | deleterious | None | None | None | None | N |
V/S | 0.9269 | likely_pathogenic | 0.9358 | pathogenic | -3.34 | Highly Destabilizing | 0.915 | D | 0.813 | deleterious | None | None | None | None | N |
V/T | 0.6935 | likely_pathogenic | 0.7141 | pathogenic | -2.859 | Highly Destabilizing | 0.86 | D | 0.595 | neutral | None | None | None | None | N |
V/W | 0.9931 | likely_pathogenic | 0.9937 | pathogenic | -1.969 | Destabilizing | 0.998 | D | 0.841 | deleterious | None | None | None | None | N |
V/Y | 0.9811 | likely_pathogenic | 0.9834 | pathogenic | -1.617 | Destabilizing | 0.978 | D | 0.755 | 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.