Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1316 | 4171;4172;4173 | chr2:178779246;178779245;178779244 | chr2:179643973;179643972;179643971 |
| N2AB | 1316 | 4171;4172;4173 | chr2:178779246;178779245;178779244 | chr2:179643973;179643972;179643971 |
| N2A | 1316 | 4171;4172;4173 | chr2:178779246;178779245;178779244 | chr2:179643973;179643972;179643971 |
| N2B | 1270 | 4033;4034;4035 | chr2:178779246;178779245;178779244 | chr2:179643973;179643972;179643971 |
| Novex-1 | 1270 | 4033;4034;4035 | chr2:178779246;178779245;178779244 | chr2:179643973;179643972;179643971 |
| Novex-2 | 1270 | 4033;4034;4035 | chr2:178779246;178779245;178779244 | chr2:179643973;179643972;179643971 |
| Novex-3 | 1316 | 4171;4172;4173 | chr2:178779246;178779245;178779244 | chr2:179643973;179643972;179643971 |
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 | None | None | 1.0 | D | 0.829 | 0.874 | 0.893698342419 | gnomAD-4.0.0 | 9.60327E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.05008E-05 | 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 | 0.8875 | likely_pathogenic | 0.8788 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.54524181 | None | None | I |
| G/C | 0.988 | likely_pathogenic | 0.9851 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/D | 0.9966 | likely_pathogenic | 0.9956 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/E | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.781144079 | None | None | I |
| G/F | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/H | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/I | 0.9977 | likely_pathogenic | 0.997 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/K | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/L | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/M | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/N | 0.9969 | likely_pathogenic | 0.9958 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/Q | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/R | 0.997 | likely_pathogenic | 0.9961 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.810283093 | None | None | I |
| G/S | 0.9027 | likely_pathogenic | 0.8883 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/T | 0.9898 | likely_pathogenic | 0.9876 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/V | 0.9942 | likely_pathogenic | 0.9927 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.754892036 | None | None | I |
| G/W | 0.9984 | likely_pathogenic | 0.9979 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/Y | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.77 | 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.