Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19684 | 59275;59276;59277 | chr2:178593069;178593068;178593067 | chr2:179457796;179457795;179457794 |
| N2AB | 18043 | 54352;54353;54354 | chr2:178593069;178593068;178593067 | chr2:179457796;179457795;179457794 |
| N2A | 17116 | 51571;51572;51573 | chr2:178593069;178593068;178593067 | chr2:179457796;179457795;179457794 |
| N2B | 10619 | 32080;32081;32082 | chr2:178593069;178593068;178593067 | chr2:179457796;179457795;179457794 |
| Novex-1 | 10744 | 32455;32456;32457 | chr2:178593069;178593068;178593067 | chr2:179457796;179457795;179457794 |
| Novex-2 | 10811 | 32656;32657;32658 | chr2:178593069;178593068;178593067 | chr2:179457796;179457795;179457794 |
| 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/H | None | None | 1.0 | D | 0.862 | 0.526 | 0.707026600127 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/S | rs760619849  |
-2.972 | 1.0 | D | 0.864 | 0.557 | 0.609694075345 | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.64253E-04 | None | 0 | 0 | 0 |
| P/S | rs760619849 |
-2.972 | 1.0 | D | 0.864 | 0.557 | 0.609694075345 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| P/S | rs760619849 |
-2.972 | 1.0 | D | 0.864 | 0.557 | 0.609694075345 | gnomAD-4.0.0 | 1.7364E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47882E-07 | 2.97435E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.743 | likely_pathogenic | 0.6235 | pathogenic | -2.125 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.530319354 | None | None | N |
| P/C | 0.9807 | likely_pathogenic | 0.9654 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -3.249 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/E | 0.9987 | likely_pathogenic | 0.9973 | pathogenic | -2.997 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9987 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/G | 0.9926 | likely_pathogenic | 0.9878 | pathogenic | -2.678 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| P/H | 0.9984 | likely_pathogenic | 0.9971 | pathogenic | -2.586 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.573466851 | None | None | N |
| P/I | 0.9544 | likely_pathogenic | 0.9317 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/K | 0.9993 | likely_pathogenic | 0.9987 | pathogenic | -1.779 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/L | 0.9369 | likely_pathogenic | 0.8867 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.560336119 | None | None | N |
| P/M | 0.9906 | likely_pathogenic | 0.9838 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/N | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -2.261 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/Q | 0.9976 | likely_pathogenic | 0.9951 | pathogenic | -2.021 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/R | 0.9972 | likely_pathogenic | 0.9946 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.572959872 | None | None | N |
| P/S | 0.9826 | likely_pathogenic | 0.9678 | pathogenic | -2.778 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.555109106 | None | None | N |
| P/T | 0.9598 | likely_pathogenic | 0.9272 | pathogenic | -2.387 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.561096587 | None | None | N |
| P/V | 0.8528 | likely_pathogenic | 0.7931 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -1.752 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.907 | 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.