Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25328 | 76207;76208;76209 | chr2:178570150;178570149;178570148 | chr2:179434877;179434876;179434875 |
| N2AB | 23687 | 71284;71285;71286 | chr2:178570150;178570149;178570148 | chr2:179434877;179434876;179434875 |
| N2A | 22760 | 68503;68504;68505 | chr2:178570150;178570149;178570148 | chr2:179434877;179434876;179434875 |
| N2B | 16263 | 49012;49013;49014 | chr2:178570150;178570149;178570148 | chr2:179434877;179434876;179434875 |
| Novex-1 | 16388 | 49387;49388;49389 | chr2:178570150;178570149;178570148 | chr2:179434877;179434876;179434875 |
| Novex-2 | 16455 | 49588;49589;49590 | chr2:178570150;178570149;178570148 | chr2:179434877;179434876;179434875 |
| 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 | rs758581188  |
-0.795 | 1.0 | D | 0.937 | 0.696 | 0.850381006097 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| P/L | rs758581188 |
-0.795 | 1.0 | D | 0.937 | 0.696 | 0.850381006097 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs758581188 |
-0.795 | 1.0 | D | 0.937 | 0.696 | 0.850381006097 | gnomAD-4.0.0 | 3.84299E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25597E-05 | 0 | 0 |
| P/S | rs201776072 |
-2.406 | 1.0 | D | 0.911 | 0.629 | 0.612736520223 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/S | rs201776072 |
-2.406 | 1.0 | D | 0.911 | 0.629 | 0.612736520223 | gnomAD-4.0.0 | 6.84309E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1595E-05 | 0 |
| P/T | rs201776072 |
-2.089 | 1.0 | D | 0.913 | 0.684 | 0.657750020267 | gnomAD-2.1.1 | 8.06E-05 | None | None | None | None | N | None | 0 | 5.80215E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs201776072 |
-2.089 | 1.0 | D | 0.913 | 0.684 | 0.657750020267 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs201776072 |
-2.089 | 1.0 | D | 0.913 | 0.684 | 0.657750020267 | gnomAD-4.0.0 | 1.36365E-05 | None | None | None | None | N | None | 0 | 3.50198E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60159E-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 | 0.8939 | likely_pathogenic | 0.8792 | pathogenic | -2.018 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.588097637 | None | None | N |
| P/C | 0.9903 | likely_pathogenic | 0.9891 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/D | 0.9985 | likely_pathogenic | 0.9978 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/E | 0.9967 | likely_pathogenic | 0.9956 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| P/F | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -1.574 | Destabilizing | 1.0 | D | 0.936 | deleterious | None | None | None | None | N |
| P/G | 0.9866 | likely_pathogenic | 0.9827 | pathogenic | -2.397 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/H | 0.9956 | likely_pathogenic | 0.9935 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/I | 0.9932 | likely_pathogenic | 0.9929 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| P/K | 0.9982 | likely_pathogenic | 0.9974 | pathogenic | -1.736 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| P/L | 0.9655 | likely_pathogenic | 0.9601 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.937 | deleterious | D | 0.637377264 | None | None | N |
| P/M | 0.9951 | likely_pathogenic | 0.9946 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| P/N | 0.998 | likely_pathogenic | 0.9972 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| P/Q | 0.9946 | likely_pathogenic | 0.9929 | pathogenic | -1.685 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.612848174 | None | None | N |
| P/R | 0.9941 | likely_pathogenic | 0.992 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.935 | deleterious | D | 0.617057498 | None | None | N |
| P/S | 0.9803 | likely_pathogenic | 0.9684 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.571674667 | None | None | N |
| P/T | 0.9743 | likely_pathogenic | 0.9628 | pathogenic | -1.925 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.608962095 | None | None | N |
| P/V | 0.9774 | likely_pathogenic | 0.9766 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.814 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.562 | Destabilizing | 1.0 | D | 0.938 | 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.