Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 18580 | 55963;55964;55965 | chr2:178601166;178601165;178601164 | chr2:179465893;179465892;179465891 |
N2AB | 16939 | 51040;51041;51042 | chr2:178601166;178601165;178601164 | chr2:179465893;179465892;179465891 |
N2A | 16012 | 48259;48260;48261 | chr2:178601166;178601165;178601164 | chr2:179465893;179465892;179465891 |
N2B | 9515 | 28768;28769;28770 | chr2:178601166;178601165;178601164 | chr2:179465893;179465892;179465891 |
Novex-1 | 9640 | 29143;29144;29145 | chr2:178601166;178601165;178601164 | chr2:179465893;179465892;179465891 |
Novex-2 | 9707 | 29344;29345;29346 | chr2:178601166;178601165;178601164 | chr2:179465893;179465892;179465891 |
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/S | rs528329600 | -2.039 | 1.0 | N | 0.763 | 0.495 | 0.41921206133 | gnomAD-2.1.1 | 7.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 8.26867E-04 | None | 0 | 0 | 0 |
P/S | rs528329600 | -2.039 | 1.0 | N | 0.763 | 0.495 | 0.41921206133 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.1425E-04 | 0 |
P/S | rs528329600 | -2.039 | 1.0 | N | 0.763 | 0.495 | 0.41921206133 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
P/S | rs528329600 | -2.039 | 1.0 | N | 0.763 | 0.495 | 0.41921206133 | gnomAD-4.0.0 | 6.87109E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.76429E-04 | 0 | 1.3097E-03 | 1.02194E-04 |
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 | 0.8911 | likely_pathogenic | 0.88 | pathogenic | -1.553 | Destabilizing | 0.999 | D | 0.794 | deleterious | N | 0.516929954 | None | None | N |
P/C | 0.9908 | likely_pathogenic | 0.9917 | pathogenic | -2.22 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
P/D | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -3.536 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
P/E | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | -3.427 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
P/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
P/G | 0.9934 | likely_pathogenic | 0.9954 | pathogenic | -1.88 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
P/H | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.544695447 | None | None | N |
P/I | 0.9954 | likely_pathogenic | 0.9936 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
P/K | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -1.61 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
P/L | 0.9825 | likely_pathogenic | 0.9807 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.51346046 | None | None | N |
P/M | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
P/N | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -2.108 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
P/Q | 0.9968 | likely_pathogenic | 0.9978 | pathogenic | -2.141 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
P/R | 0.9946 | likely_pathogenic | 0.9964 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.532578673 | None | None | N |
P/S | 0.9853 | likely_pathogenic | 0.9871 | pathogenic | -2.356 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.484253389 | None | None | N |
P/T | 0.9829 | likely_pathogenic | 0.9822 | pathogenic | -2.148 | Highly Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.496370163 | None | None | N |
P/V | 0.9805 | likely_pathogenic | 0.9713 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
P/Y | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.841 | 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.