Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25205 | 75838;75839;75840 | chr2:178570519;178570518;178570517 | chr2:179435246;179435245;179435244 |
| N2AB | 23564 | 70915;70916;70917 | chr2:178570519;178570518;178570517 | chr2:179435246;179435245;179435244 |
| N2A | 22637 | 68134;68135;68136 | chr2:178570519;178570518;178570517 | chr2:179435246;179435245;179435244 |
| N2B | 16140 | 48643;48644;48645 | chr2:178570519;178570518;178570517 | chr2:179435246;179435245;179435244 |
| Novex-1 | 16265 | 49018;49019;49020 | chr2:178570519;178570518;178570517 | chr2:179435246;179435245;179435244 |
| Novex-2 | 16332 | 49219;49220;49221 | chr2:178570519;178570518;178570517 | chr2:179435246;179435245;179435244 |
| 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 | rs1324051113  |
-0.825 | 1.0 | D | 0.814 | 0.786 | 0.916883702443 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| P/L | rs1324051113 |
-0.825 | 1.0 | D | 0.814 | 0.786 | 0.916883702443 | 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 | rs1324051113 |
-0.825 | 1.0 | D | 0.814 | 0.786 | 0.916883702443 | gnomAD-4.0.0 | 6.81925E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47781E-06 | 0 | 1.6019E-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 | 0.9242 | likely_pathogenic | 0.9188 | pathogenic | -1.774 | Destabilizing | 0.999 | D | 0.839 | deleterious | D | 0.64373674 | None | None | N |
| P/C | 0.9927 | likely_pathogenic | 0.9934 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.107 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/E | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -3.041 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/G | 0.996 | likely_pathogenic | 0.9959 | pathogenic | -2.124 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/H | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| P/I | 0.9929 | likely_pathogenic | 0.9942 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| P/K | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.562 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/L | 0.9747 | likely_pathogenic | 0.9786 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.681518858 | None | None | N |
| P/M | 0.9969 | likely_pathogenic | 0.9975 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| P/N | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.744 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/Q | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -1.878 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.681720662 | None | None | N |
| P/R | 0.9965 | likely_pathogenic | 0.9968 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.665499497 | None | None | N |
| P/S | 0.9933 | likely_pathogenic | 0.9926 | pathogenic | -2.119 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.665297693 | None | None | N |
| P/T | 0.9895 | likely_pathogenic | 0.9897 | pathogenic | -1.955 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.681518858 | None | None | N |
| P/V | 0.981 | likely_pathogenic | 0.9834 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.573 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.803 | 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.