Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23560 | 70903;70904;70905 | chr2:178575454;178575453;178575452 | chr2:179440181;179440180;179440179 |
| N2AB | 21919 | 65980;65981;65982 | chr2:178575454;178575453;178575452 | chr2:179440181;179440180;179440179 |
| N2A | 20992 | 63199;63200;63201 | chr2:178575454;178575453;178575452 | chr2:179440181;179440180;179440179 |
| N2B | 14495 | 43708;43709;43710 | chr2:178575454;178575453;178575452 | chr2:179440181;179440180;179440179 |
| Novex-1 | 14620 | 44083;44084;44085 | chr2:178575454;178575453;178575452 | chr2:179440181;179440180;179440179 |
| Novex-2 | 14687 | 44284;44285;44286 | chr2:178575454;178575453;178575452 | chr2:179440181;179440180;179440179 |
| 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 | rs1458227087  |
-0.948 | 1.0 | N | 0.837 | 0.713 | 0.388010793773 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1458227087 |
-0.948 | 1.0 | N | 0.837 | 0.713 | 0.388010793773 | gnomAD-4.0.0 | 4.79002E-06 | None | None | None | None | N | None | 8.96432E-05 | 2.23614E-05 | None | 0 | 2.52156E-05 | None | 0 | 1.73671E-04 | 0 | 1.15945E-05 | 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 | 0.9561 | likely_pathogenic | 0.9431 | pathogenic | -0.204 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.5072349 | None | None | N |
| G/C | 0.9861 | likely_pathogenic | 0.9817 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.549319213 | None | None | N |
| G/D | 0.9958 | likely_pathogenic | 0.9944 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.506309847 | None | None | N |
| G/E | 0.9968 | likely_pathogenic | 0.9961 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/F | 0.9976 | likely_pathogenic | 0.9966 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/H | 0.9971 | likely_pathogenic | 0.996 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/I | 0.9982 | likely_pathogenic | 0.9973 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/K | 0.9962 | likely_pathogenic | 0.9953 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/L | 0.9974 | likely_pathogenic | 0.996 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/M | 0.9986 | likely_pathogenic | 0.9979 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/N | 0.9945 | likely_pathogenic | 0.9912 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/Q | 0.996 | likely_pathogenic | 0.9944 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/R | 0.9842 | likely_pathogenic | 0.9811 | pathogenic | -0.154 | Destabilizing | 1.0 | D | 0.832 | deleterious | N | 0.505246663 | None | None | N |
| G/S | 0.9261 | likely_pathogenic | 0.904 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.514943901 | None | None | N |
| G/T | 0.9923 | likely_pathogenic | 0.9901 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/V | 0.9962 | likely_pathogenic | 0.9948 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.516971817 | None | None | N |
| G/W | 0.994 | likely_pathogenic | 0.9921 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/Y | 0.9962 | likely_pathogenic | 0.995 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.775 | 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.