Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24547 | 73864;73865;73866 | chr2:178572493;178572492;178572491 | chr2:179437220;179437219;179437218 |
| N2AB | 22906 | 68941;68942;68943 | chr2:178572493;178572492;178572491 | chr2:179437220;179437219;179437218 |
| N2A | 21979 | 66160;66161;66162 | chr2:178572493;178572492;178572491 | chr2:179437220;179437219;179437218 |
| N2B | 15482 | 46669;46670;46671 | chr2:178572493;178572492;178572491 | chr2:179437220;179437219;179437218 |
| Novex-1 | 15607 | 47044;47045;47046 | chr2:178572493;178572492;178572491 | chr2:179437220;179437219;179437218 |
| Novex-2 | 15674 | 47245;47246;47247 | chr2:178572493;178572492;178572491 | chr2:179437220;179437219;179437218 |
| 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/E | rs777119155  |
-1.711 | 1.0 | D | 0.864 | 0.588 | 0.541149246611 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.55E-05 | None | 0 | 0 | 0 |
| G/E | rs777119155 |
-1.711 | 1.0 | D | 0.864 | 0.588 | 0.541149246611 | gnomAD-4.0.0 | 6.16026E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.04404E-04 | 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 | 0.9748 | likely_pathogenic | 0.9562 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.534101794 | None | None | N |
| G/C | 0.9931 | likely_pathogenic | 0.988 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/D | 0.9987 | likely_pathogenic | 0.998 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/E | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.526593376 | None | None | N |
| G/F | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/H | 0.9995 | likely_pathogenic | 0.9989 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/I | 0.9992 | likely_pathogenic | 0.9984 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/K | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/L | 0.9991 | likely_pathogenic | 0.9981 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/M | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/N | 0.9986 | likely_pathogenic | 0.9976 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9995 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/Q | 0.9991 | likely_pathogenic | 0.9984 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/R | 0.9969 | likely_pathogenic | 0.9949 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.848 | deleterious | N | 0.503071071 | None | None | N |
| G/S | 0.969 | likely_pathogenic | 0.9515 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/T | 0.997 | likely_pathogenic | 0.9943 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/V | 0.9982 | likely_pathogenic | 0.9966 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.528114313 | None | None | N |
| G/W | 0.9985 | likely_pathogenic | 0.9973 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/Y | 0.999 | likely_pathogenic | 0.9982 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.809 | 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.