Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28083 | 84472;84473;84474 | chr2:178561885;178561884;178561883 | chr2:179426612;179426611;179426610 |
| N2AB | 26442 | 79549;79550;79551 | chr2:178561885;178561884;178561883 | chr2:179426612;179426611;179426610 |
| N2A | 25515 | 76768;76769;76770 | chr2:178561885;178561884;178561883 | chr2:179426612;179426611;179426610 |
| N2B | 19018 | 57277;57278;57279 | chr2:178561885;178561884;178561883 | chr2:179426612;179426611;179426610 |
| Novex-1 | 19143 | 57652;57653;57654 | chr2:178561885;178561884;178561883 | chr2:179426612;179426611;179426610 |
| Novex-2 | 19210 | 57853;57854;57855 | chr2:178561885;178561884;178561883 | chr2:179426612;179426611;179426610 |
| 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/S | None | None | 1.0 | N | 0.801 | 0.516 | 0.418095516054 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.825 | 0.506 | 0.727170900192 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.9375 | likely_pathogenic | 0.9366 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.528176765 | None | None | I |
| G/C | 0.9846 | likely_pathogenic | 0.9853 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.540800518 | None | None | I |
| G/D | 0.9929 | likely_pathogenic | 0.9941 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.533239193 | None | None | I |
| G/E | 0.9956 | likely_pathogenic | 0.9963 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/F | 0.9981 | likely_pathogenic | 0.9984 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/H | 0.9976 | likely_pathogenic | 0.998 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/I | 0.9976 | likely_pathogenic | 0.9975 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/K | 0.9965 | likely_pathogenic | 0.9969 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/L | 0.9971 | likely_pathogenic | 0.9971 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/M | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/N | 0.9949 | likely_pathogenic | 0.996 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/Q | 0.9961 | likely_pathogenic | 0.9969 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/R | 0.9844 | likely_pathogenic | 0.9852 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.51656697 | None | None | I |
| G/S | 0.9178 | likely_pathogenic | 0.9257 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.508805062 | None | None | I |
| G/T | 0.9915 | likely_pathogenic | 0.9916 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/V | 0.9942 | likely_pathogenic | 0.9941 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.558397794 | None | None | I |
| G/W | 0.9939 | likely_pathogenic | 0.9943 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/Y | 0.9969 | likely_pathogenic | 0.9973 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.797 | 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.