Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18785 | 56578;56579;56580 | chr2:178599440;178599439;178599438 | chr2:179464167;179464166;179464165 |
| N2AB | 17144 | 51655;51656;51657 | chr2:178599440;178599439;178599438 | chr2:179464167;179464166;179464165 |
| N2A | 16217 | 48874;48875;48876 | chr2:178599440;178599439;178599438 | chr2:179464167;179464166;179464165 |
| N2B | 9720 | 29383;29384;29385 | chr2:178599440;178599439;178599438 | chr2:179464167;179464166;179464165 |
| Novex-1 | 9845 | 29758;29759;29760 | chr2:178599440;178599439;178599438 | chr2:179464167;179464166;179464165 |
| Novex-2 | 9912 | 29959;29960;29961 | chr2:178599440;178599439;178599438 | chr2:179464167;179464166;179464165 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.851 | 0.811 | 0.886019371475 | gnomAD-4.0.0 | 7.24949E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.30425E-07 | 0 | 0 |
| P/R | rs749655114  |
-1.047 | 1.0 | D | 0.867 | 0.835 | 0.831190613722 | gnomAD-2.1.1 | 2.16E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.47E-05 | 0 |
| P/R | rs749655114 |
-1.047 | 1.0 | D | 0.867 | 0.835 | 0.831190613722 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| P/R | rs749655114 |
-1.047 | 1.0 | D | 0.867 | 0.835 | 0.831190613722 | gnomAD-4.0.0 | 1.37128E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.66265E-05 | 0 | 3.39766E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9253 | likely_pathogenic | 0.8941 | pathogenic | -1.457 | Destabilizing | 0.999 | D | 0.854 | deleterious | D | 0.614948324 | None | None | N |
| P/C | 0.9921 | likely_pathogenic | 0.9885 | pathogenic | -1.785 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/D | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -3.212 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/E | 0.9975 | likely_pathogenic | 0.9964 | pathogenic | -3.152 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/G | 0.9934 | likely_pathogenic | 0.9907 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/H | 0.9972 | likely_pathogenic | 0.9957 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.663843984 | None | None | N |
| P/I | 0.9941 | likely_pathogenic | 0.9893 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| P/K | 0.9978 | likely_pathogenic | 0.9969 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/L | 0.9824 | likely_pathogenic | 0.9674 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.647390654 | None | None | N |
| P/M | 0.9973 | likely_pathogenic | 0.9955 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| P/N | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -1.699 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Q | 0.9964 | likely_pathogenic | 0.9945 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/R | 0.9924 | likely_pathogenic | 0.9892 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.647390654 | None | None | N |
| P/S | 0.9925 | likely_pathogenic | 0.9878 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.64718885 | None | None | N |
| P/T | 0.988 | likely_pathogenic | 0.9797 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.638104068 | None | None | N |
| P/V | 0.9831 | likely_pathogenic | 0.9725 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.426 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.854 | 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.