Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 22297 | 67114;67115;67116 | chr2:178580490;178580489;178580488 | chr2:179445217;179445216;179445215 |
N2AB | 20656 | 62191;62192;62193 | chr2:178580490;178580489;178580488 | chr2:179445217;179445216;179445215 |
N2A | 19729 | 59410;59411;59412 | chr2:178580490;178580489;178580488 | chr2:179445217;179445216;179445215 |
N2B | 13232 | 39919;39920;39921 | chr2:178580490;178580489;178580488 | chr2:179445217;179445216;179445215 |
Novex-1 | 13357 | 40294;40295;40296 | chr2:178580490;178580489;178580488 | chr2:179445217;179445216;179445215 |
Novex-2 | 13424 | 40495;40496;40497 | chr2:178580490;178580489;178580488 | chr2:179445217;179445216;179445215 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/N | rs1013098448 | None | 1.0 | D | 0.739 | 0.436 | 0.180583059064 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
K/N | rs1013098448 | None | 1.0 | D | 0.739 | 0.436 | 0.180583059064 | gnomAD-4.0.0 | 6.57583E-06 | None | None | None | None | N | None | 2.41336E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/A | 0.9914 | likely_pathogenic | 0.9906 | pathogenic | -0.912 | Destabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
K/C | 0.9766 | likely_pathogenic | 0.9699 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
K/D | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -0.172 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
K/E | 0.9918 | likely_pathogenic | 0.9906 | pathogenic | 0.018 | Stabilizing | 0.999 | D | 0.557 | neutral | D | 0.526652147 | None | None | N |
K/F | 0.9912 | likely_pathogenic | 0.9894 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
K/G | 0.9945 | likely_pathogenic | 0.9941 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
K/H | 0.8902 | likely_pathogenic | 0.8709 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
K/I | 0.9647 | likely_pathogenic | 0.9558 | pathogenic | 0.248 | Stabilizing | 1.0 | D | 0.843 | deleterious | D | 0.525384699 | None | None | N |
K/L | 0.9367 | likely_pathogenic | 0.915 | pathogenic | 0.248 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
K/M | 0.9264 | likely_pathogenic | 0.916 | pathogenic | -0.009 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
K/N | 0.9942 | likely_pathogenic | 0.994 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.526398657 | None | None | N |
K/P | 0.9972 | likely_pathogenic | 0.9971 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
K/Q | 0.914 | likely_pathogenic | 0.8936 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.525891678 | None | None | N |
K/R | 0.2174 | likely_benign | 0.1801 | benign | -0.693 | Destabilizing | 0.999 | D | 0.579 | neutral | N | 0.462736914 | None | None | N |
K/S | 0.9955 | likely_pathogenic | 0.995 | pathogenic | -1.536 | Destabilizing | 0.999 | D | 0.607 | neutral | None | None | None | None | N |
K/T | 0.9848 | likely_pathogenic | 0.9833 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.526145168 | None | None | N |
K/V | 0.955 | likely_pathogenic | 0.9444 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
K/W | 0.9949 | likely_pathogenic | 0.9924 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
K/Y | 0.9751 | likely_pathogenic | 0.9691 | pathogenic | 0.083 | Stabilizing | 1.0 | D | 0.823 | 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.