Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31782 | 95569;95570;95571 | chr2:178545892;178545891;178545890 | chr2:179410619;179410618;179410617 |
| N2AB | 30141 | 90646;90647;90648 | chr2:178545892;178545891;178545890 | chr2:179410619;179410618;179410617 |
| N2A | 29214 | 87865;87866;87867 | chr2:178545892;178545891;178545890 | chr2:179410619;179410618;179410617 |
| N2B | 22717 | 68374;68375;68376 | chr2:178545892;178545891;178545890 | chr2:179410619;179410618;179410617 |
| Novex-1 | 22842 | 68749;68750;68751 | chr2:178545892;178545891;178545890 | chr2:179410619;179410618;179410617 |
| Novex-2 | 22909 | 68950;68951;68952 | chr2:178545892;178545891;178545890 | chr2:179410619;179410618;179410617 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs377076423  |
-1.282 | 0.117 | D | 0.303 | 0.545 | 0.647671066071 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11396E-04 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs377076423 |
-1.282 | 0.117 | D | 0.303 | 0.545 | 0.647671066071 | gnomAD-4.0.0 | 2.05259E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.03905E-05 | None | 0 | 0 | 8.99475E-07 | 0 | 0 |
| V/M | rs377076423 |
-1.749 | 0.993 | D | 0.723 | 0.669 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.23967E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/M | rs377076423 |
-1.749 | 0.993 | D | 0.723 | 0.669 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs377076423 |
-1.749 | 0.993 | D | 0.723 | 0.669 | None | gnomAD-4.0.0 | 3.09833E-06 | None | None | None | None | N | None | 6.67361E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7874 | likely_pathogenic | 0.7574 | pathogenic | -2.639 | Highly Destabilizing | 0.977 | D | 0.605 | neutral | D | 0.587865031 | None | None | N |
| V/C | 0.9299 | likely_pathogenic | 0.9156 | pathogenic | -2.138 | Highly Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| V/D | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -3.679 | Highly Destabilizing | 0.999 | D | 0.904 | deleterious | None | None | None | None | N |
| V/E | 0.9933 | likely_pathogenic | 0.9929 | pathogenic | -3.395 | Highly Destabilizing | 0.999 | D | 0.873 | deleterious | D | 0.658039918 | None | None | N |
| V/F | 0.8601 | likely_pathogenic | 0.8424 | pathogenic | -1.557 | Destabilizing | 0.995 | D | 0.801 | deleterious | None | None | None | None | N |
| V/G | 0.8775 | likely_pathogenic | 0.8758 | pathogenic | -3.183 | Highly Destabilizing | 0.999 | D | 0.895 | deleterious | D | 0.658039918 | None | None | N |
| V/H | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -2.961 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/I | 0.0974 | likely_benign | 0.0863 | benign | -1.05 | Destabilizing | 0.921 | D | 0.572 | neutral | None | None | None | None | N |
| V/K | 0.9938 | likely_pathogenic | 0.9943 | pathogenic | -2.374 | Highly Destabilizing | 0.998 | D | 0.875 | deleterious | None | None | None | None | N |
| V/L | 0.5354 | ambiguous | 0.513 | ambiguous | -1.05 | Destabilizing | 0.117 | N | 0.303 | neutral | D | 0.540358986 | None | None | N |
| V/M | 0.676 | likely_pathogenic | 0.6249 | pathogenic | -1.223 | Destabilizing | 0.993 | D | 0.723 | prob.delet. | D | 0.576762215 | None | None | N |
| V/N | 0.9919 | likely_pathogenic | 0.9913 | pathogenic | -2.95 | Highly Destabilizing | 0.999 | D | 0.907 | deleterious | None | None | None | None | N |
| V/P | 0.9939 | likely_pathogenic | 0.9938 | pathogenic | -1.564 | Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| V/Q | 0.9898 | likely_pathogenic | 0.9896 | pathogenic | -2.682 | Highly Destabilizing | 0.999 | D | 0.9 | deleterious | None | None | None | None | N |
| V/R | 0.9886 | likely_pathogenic | 0.9899 | pathogenic | -2.231 | Highly Destabilizing | 0.998 | D | 0.907 | deleterious | None | None | None | None | N |
| V/S | 0.9555 | likely_pathogenic | 0.9483 | pathogenic | -3.441 | Highly Destabilizing | 0.998 | D | 0.865 | deleterious | None | None | None | None | N |
| V/T | 0.8837 | likely_pathogenic | 0.8528 | pathogenic | -3.026 | Highly Destabilizing | 0.991 | D | 0.639 | neutral | None | None | None | None | N |
| V/W | 0.9976 | likely_pathogenic | 0.9972 | pathogenic | -2.151 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/Y | 0.9861 | likely_pathogenic | 0.9858 | pathogenic | -1.874 | Destabilizing | 0.999 | D | 0.803 | 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.