Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15187 | 45784;45785;45786 | chr2:178621159;178621158;178621157 | chr2:179485886;179485885;179485884 |
| N2AB | 13546 | 40861;40862;40863 | chr2:178621159;178621158;178621157 | chr2:179485886;179485885;179485884 |
| N2A | 12619 | 38080;38081;38082 | chr2:178621159;178621158;178621157 | chr2:179485886;179485885;179485884 |
| N2B | 6122 | 18589;18590;18591 | chr2:178621159;178621158;178621157 | chr2:179485886;179485885;179485884 |
| Novex-1 | 6247 | 18964;18965;18966 | chr2:178621159;178621158;178621157 | chr2:179485886;179485885;179485884 |
| Novex-2 | 6314 | 19165;19166;19167 | chr2:178621159;178621158;178621157 | chr2:179485886;179485885;179485884 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1175658292  |
-1.461 | 1.0 | D | 0.837 | 0.695 | 0.631293924618 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1175658292 |
-1.461 | 1.0 | D | 0.837 | 0.695 | 0.631293924618 | gnomAD-4.0.0 | 1.59356E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78909E-05 | None | 0 | 0 | 0 | 0 | 0 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6071 | likely_pathogenic | 0.5937 | pathogenic | -0.73 | Destabilizing | 0.998 | D | 0.751 | deleterious | D | 0.611836079 | None | None | N |
| G/C | 0.9479 | likely_pathogenic | 0.8999 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.810489009 | None | None | N |
| G/D | 0.8917 | likely_pathogenic | 0.8386 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.727453902 | None | None | N |
| G/E | 0.9606 | likely_pathogenic | 0.9195 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/F | 0.9945 | likely_pathogenic | 0.9886 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/H | 0.9923 | likely_pathogenic | 0.9839 | pathogenic | -1.462 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| G/I | 0.9936 | likely_pathogenic | 0.984 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/K | 0.9919 | likely_pathogenic | 0.9792 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/L | 0.9895 | likely_pathogenic | 0.9793 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/M | 0.9933 | likely_pathogenic | 0.9848 | pathogenic | -0.091 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/N | 0.9597 | likely_pathogenic | 0.9297 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/P | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/Q | 0.9806 | likely_pathogenic | 0.957 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/R | 0.9812 | likely_pathogenic | 0.9566 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.810435396 | None | None | N |
| G/S | 0.6909 | likely_pathogenic | 0.6062 | pathogenic | -1.241 | Destabilizing | 0.991 | D | 0.707 | prob.neutral | D | 0.718433423 | None | None | N |
| G/T | 0.9536 | likely_pathogenic | 0.9104 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/V | 0.9799 | likely_pathogenic | 0.9565 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.754394201 | None | None | N |
| G/W | 0.9946 | likely_pathogenic | 0.9878 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/Y | 0.9933 | likely_pathogenic | 0.9865 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.831 | 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.