Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31409 | 94450;94451;94452 | chr2:178547300;178547299;178547298 | chr2:179412027;179412026;179412025 |
| N2AB | 29768 | 89527;89528;89529 | chr2:178547300;178547299;178547298 | chr2:179412027;179412026;179412025 |
| N2A | 28841 | 86746;86747;86748 | chr2:178547300;178547299;178547298 | chr2:179412027;179412026;179412025 |
| N2B | 22344 | 67255;67256;67257 | chr2:178547300;178547299;178547298 | chr2:179412027;179412026;179412025 |
| Novex-1 | 22469 | 67630;67631;67632 | chr2:178547300;178547299;178547298 | chr2:179412027;179412026;179412025 |
| Novex-2 | 22536 | 67831;67832;67833 | chr2:178547300;178547299;178547298 | chr2:179412027;179412026;179412025 |
| 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/Q | None | None | 1.0 | D | 0.829 | 0.514 | 0.701802989099 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62502E-06 | 0 | 0 |
| P/S | rs1464695009  |
-2.196 | 1.0 | D | 0.759 | 0.496 | 0.49530441419 | gnomAD-2.1.1 | 1.24E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.03505E-04 | None | 0 | 0 | 0 |
| P/S | rs1464695009 |
-2.196 | 1.0 | D | 0.759 | 0.496 | 0.49530441419 | gnomAD-4.0.0 | 8.07935E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.29778E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8759 | likely_pathogenic | 0.8617 | pathogenic | -1.424 | Destabilizing | 0.999 | D | 0.803 | deleterious | D | 0.525465557 | None | None | N |
| P/C | 0.9918 | likely_pathogenic | 0.991 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.258 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| P/E | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -3.21 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/G | 0.9955 | likely_pathogenic | 0.9951 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/H | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| P/I | 0.9956 | likely_pathogenic | 0.9951 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| P/K | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| P/L | 0.9832 | likely_pathogenic | 0.9825 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.560406619 | None | None | N |
| P/M | 0.9982 | likely_pathogenic | 0.9979 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/N | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.75 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| P/Q | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -1.935 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.562434535 | None | None | N |
| P/R | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.562181046 | None | None | N |
| P/S | 0.9881 | likely_pathogenic | 0.9846 | pathogenic | -2.042 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.53542951 | None | None | N |
| P/T | 0.9914 | likely_pathogenic | 0.9883 | pathogenic | -1.897 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.520692617 | None | None | N |
| P/V | 0.9812 | likely_pathogenic | 0.9789 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.737 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.819 | 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.