Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 15924 | 47995;47996;47997 | chr2:178617225;178617224;178617223 | chr2:179481952;179481951;179481950 |
N2AB | 14283 | 43072;43073;43074 | chr2:178617225;178617224;178617223 | chr2:179481952;179481951;179481950 |
N2A | 13356 | 40291;40292;40293 | chr2:178617225;178617224;178617223 | chr2:179481952;179481951;179481950 |
N2B | 6859 | 20800;20801;20802 | chr2:178617225;178617224;178617223 | chr2:179481952;179481951;179481950 |
Novex-1 | 6984 | 21175;21176;21177 | chr2:178617225;178617224;178617223 | chr2:179481952;179481951;179481950 |
Novex-2 | 7051 | 21376;21377;21378 | chr2:178617225;178617224;178617223 | chr2:179481952;179481951;179481950 |
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 | 1.0 | D | 0.875 | 0.53 | 0.706036002137 | gnomAD-4.0.0 | 7.16023E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.25191E-07 | 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 | 0.931 | likely_pathogenic | 0.9269 | pathogenic | -2.601 | Highly Destabilizing | 0.999 | D | 0.826 | deleterious | None | None | None | None | N |
L/C | 0.932 | likely_pathogenic | 0.9292 | pathogenic | -2.438 | Highly Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
L/D | 0.9972 | likely_pathogenic | 0.9969 | pathogenic | -2.661 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
L/E | 0.9835 | likely_pathogenic | 0.9821 | pathogenic | -2.55 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
L/F | 0.7519 | likely_pathogenic | 0.7555 | pathogenic | -1.921 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.76144295 | None | None | N |
L/G | 0.9816 | likely_pathogenic | 0.9814 | pathogenic | -3.042 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
L/H | 0.9718 | likely_pathogenic | 0.9703 | pathogenic | -2.2 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
L/I | 0.2808 | likely_benign | 0.276 | benign | -1.376 | Destabilizing | 0.999 | D | 0.834 | deleterious | None | None | None | None | N |
L/K | 0.9692 | likely_pathogenic | 0.966 | pathogenic | -1.973 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
L/M | 0.4135 | ambiguous | 0.4171 | ambiguous | -1.393 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.645129669 | None | None | N |
L/N | 0.9774 | likely_pathogenic | 0.9765 | pathogenic | -2.115 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
L/P | 0.9803 | likely_pathogenic | 0.9773 | pathogenic | -1.761 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
L/Q | 0.9441 | likely_pathogenic | 0.9387 | pathogenic | -2.213 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
L/R | 0.9487 | likely_pathogenic | 0.9434 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
L/S | 0.9823 | likely_pathogenic | 0.9807 | pathogenic | -2.863 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.812669685 | None | None | N |
L/T | 0.9064 | likely_pathogenic | 0.9024 | pathogenic | -2.612 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
L/V | 0.3721 | ambiguous | 0.3633 | ambiguous | -1.761 | Destabilizing | 0.999 | D | 0.841 | deleterious | D | 0.605213304 | None | None | N |
L/W | 0.9476 | likely_pathogenic | 0.95 | pathogenic | -2.051 | Highly Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.812669685 | None | None | N |
L/Y | 0.9698 | likely_pathogenic | 0.9709 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.812 | 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.