Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28655 | 86188;86189;86190 | chr2:178560169;178560168;178560167 | chr2:179424896;179424895;179424894 |
| N2AB | 27014 | 81265;81266;81267 | chr2:178560169;178560168;178560167 | chr2:179424896;179424895;179424894 |
| N2A | 26087 | 78484;78485;78486 | chr2:178560169;178560168;178560167 | chr2:179424896;179424895;179424894 |
| N2B | 19590 | 58993;58994;58995 | chr2:178560169;178560168;178560167 | chr2:179424896;179424895;179424894 |
| Novex-1 | 19715 | 59368;59369;59370 | chr2:178560169;178560168;178560167 | chr2:179424896;179424895;179424894 |
| Novex-2 | 19782 | 59569;59570;59571 | chr2:178560169;178560168;178560167 | chr2:179424896;179424895;179424894 |
| 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/S | rs775991395  |
-2.951 | 1.0 | D | 0.858 | 0.494 | 0.66462611991 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| P/S | rs775991395 |
-2.951 | 1.0 | D | 0.858 | 0.494 | 0.66462611991 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7369 | likely_pathogenic | 0.6867 | pathogenic | -2.162 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.526204751 | None | None | N |
| P/C | 0.9779 | likely_pathogenic | 0.97 | pathogenic | -2.297 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -3.348 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/E | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -3.143 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/F | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -1.24 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/G | 0.9909 | likely_pathogenic | 0.9875 | pathogenic | -2.647 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/H | 0.9973 | likely_pathogenic | 0.9968 | pathogenic | -2.33 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/I | 0.9558 | likely_pathogenic | 0.9598 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/K | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/L | 0.9363 | likely_pathogenic | 0.9272 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.566261148 | None | None | N |
| P/M | 0.9915 | likely_pathogenic | 0.99 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/N | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -2.243 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| P/Q | 0.9959 | likely_pathogenic | 0.9948 | pathogenic | -2.116 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.556679269 | None | None | N |
| P/R | 0.9959 | likely_pathogenic | 0.9954 | pathogenic | -1.62 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.567528595 | None | None | N |
| P/S | 0.9709 | likely_pathogenic | 0.9626 | pathogenic | -2.748 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.535852762 | None | None | N |
| P/T | 0.9462 | likely_pathogenic | 0.9385 | pathogenic | -2.41 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.544309005 | None | None | N |
| P/V | 0.8634 | likely_pathogenic | 0.8705 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.736 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.905 | 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.