Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 26687 | 80284;80285;80286 | chr2:178566073;178566072;178566071 | chr2:179430800;179430799;179430798 |
N2AB | 25046 | 75361;75362;75363 | chr2:178566073;178566072;178566071 | chr2:179430800;179430799;179430798 |
N2A | 24119 | 72580;72581;72582 | chr2:178566073;178566072;178566071 | chr2:179430800;179430799;179430798 |
N2B | 17622 | 53089;53090;53091 | chr2:178566073;178566072;178566071 | chr2:179430800;179430799;179430798 |
Novex-1 | 17747 | 53464;53465;53466 | chr2:178566073;178566072;178566071 | chr2:179430800;179430799;179430798 |
Novex-2 | 17814 | 53665;53666;53667 | chr2:178566073;178566072;178566071 | chr2:179430800;179430799;179430798 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/Q | None | None | 1.0 | D | 0.897 | 0.755 | 0.620070164782 | gnomAD-4.0.0 | 1.36855E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99556E-07 | 0 | 1.657E-05 |
P/S | None | None | 0.999 | D | 0.865 | 0.714 | 0.587297536726 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/A | 0.4073 | ambiguous | 0.4422 | ambiguous | -2.311 | Highly Destabilizing | 0.982 | D | 0.82 | deleterious | D | 0.588851262 | None | None | N |
P/C | 0.5722 | likely_pathogenic | 0.6052 | pathogenic | -1.891 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
P/D | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -3.269 | Highly Destabilizing | 0.993 | D | 0.881 | deleterious | None | None | None | None | N |
P/E | 0.9965 | likely_pathogenic | 0.9968 | pathogenic | -2.998 | Highly Destabilizing | 0.996 | D | 0.881 | deleterious | None | None | None | None | N |
P/F | 0.9967 | likely_pathogenic | 0.9965 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.945 | deleterious | None | None | None | None | N |
P/G | 0.9729 | likely_pathogenic | 0.9795 | pathogenic | -2.832 | Highly Destabilizing | 0.999 | D | 0.914 | deleterious | None | None | None | None | N |
P/H | 0.9955 | likely_pathogenic | 0.9957 | pathogenic | -2.63 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
P/I | 0.5843 | likely_pathogenic | 0.5784 | pathogenic | -0.799 | Destabilizing | 0.984 | D | 0.803 | deleterious | None | None | None | None | N |
P/K | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -1.857 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
P/L | 0.677 | likely_pathogenic | 0.6753 | pathogenic | -0.799 | Destabilizing | 0.998 | D | 0.892 | deleterious | D | 0.634325174 | None | None | N |
P/M | 0.9192 | likely_pathogenic | 0.9287 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
P/N | 0.9955 | likely_pathogenic | 0.9963 | pathogenic | -2.397 | Highly Destabilizing | 0.999 | D | 0.933 | deleterious | None | None | None | None | N |
P/Q | 0.9901 | likely_pathogenic | 0.9905 | pathogenic | -2.1 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.624806423 | None | None | N |
P/R | 0.9937 | likely_pathogenic | 0.9932 | pathogenic | -1.836 | Destabilizing | 1.0 | D | 0.938 | deleterious | D | 0.634526978 | None | None | N |
P/S | 0.9062 | likely_pathogenic | 0.921 | pathogenic | -2.859 | Highly Destabilizing | 0.999 | D | 0.865 | deleterious | D | 0.624806423 | None | None | N |
P/T | 0.6924 | likely_pathogenic | 0.7198 | pathogenic | -2.464 | Highly Destabilizing | 0.997 | D | 0.863 | deleterious | D | 0.608988866 | None | None | N |
P/V | 0.2797 | likely_benign | 0.2995 | benign | -1.287 | Destabilizing | 0.991 | D | 0.861 | deleterious | None | None | None | None | N |
P/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
P/Y | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.949 | 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.