Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29615 | 89068;89069;89070 | chr2:178554504;178554503;178554502 | chr2:179419231;179419230;179419229 |
| N2AB | 27974 | 84145;84146;84147 | chr2:178554504;178554503;178554502 | chr2:179419231;179419230;179419229 |
| N2A | 27047 | 81364;81365;81366 | chr2:178554504;178554503;178554502 | chr2:179419231;179419230;179419229 |
| N2B | 20550 | 61873;61874;61875 | chr2:178554504;178554503;178554502 | chr2:179419231;179419230;179419229 |
| Novex-1 | 20675 | 62248;62249;62250 | chr2:178554504;178554503;178554502 | chr2:179419231;179419230;179419229 |
| Novex-2 | 20742 | 62449;62450;62451 | chr2:178554504;178554503;178554502 | chr2:179419231;179419230;179419229 |
| 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/R | rs878880360  |
-0.11 | 1.0 | D | 0.917 | 0.675 | 0.703637343589 | gnomAD-2.1.1 | 7.2E-06 | None | None | None | None | I | None | 8.3E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs878880360 |
-0.11 | 1.0 | D | 0.917 | 0.675 | 0.703637343589 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs878880360 |
-0.11 | 1.0 | D | 0.917 | 0.675 | 0.703637343589 | gnomAD-4.0.0 | 2.56401E-06 | None | None | None | None | I | None | 3.38364E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8128 | likely_pathogenic | 0.8552 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.531519171 | None | None | I |
| G/C | 0.9181 | likely_pathogenic | 0.9399 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/D | 0.9295 | likely_pathogenic | 0.948 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | I |
| G/E | 0.9721 | likely_pathogenic | 0.9802 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.554903345 | None | None | I |
| G/F | 0.9918 | likely_pathogenic | 0.9943 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | I |
| G/H | 0.9801 | likely_pathogenic | 0.9871 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/I | 0.9905 | likely_pathogenic | 0.9932 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
| G/K | 0.9858 | likely_pathogenic | 0.99 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/L | 0.9859 | likely_pathogenic | 0.9895 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/M | 0.9918 | likely_pathogenic | 0.9944 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/N | 0.9525 | likely_pathogenic | 0.9664 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/P | 0.9983 | likely_pathogenic | 0.9989 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/Q | 0.9646 | likely_pathogenic | 0.9749 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/R | 0.9473 | likely_pathogenic | 0.9637 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.543547039 | None | None | I |
| G/S | 0.6402 | likely_pathogenic | 0.7234 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/T | 0.9493 | likely_pathogenic | 0.9647 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/V | 0.9806 | likely_pathogenic | 0.9862 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.894 | deleterious | N | 0.520162865 | None | None | I |
| G/W | 0.9808 | likely_pathogenic | 0.9878 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| G/Y | 0.9835 | likely_pathogenic | 0.9888 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
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.