Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18959 | 57100;57101;57102 | chr2:178598835;178598834;178598833 | chr2:179463562;179463561;179463560 |
| N2AB | 17318 | 52177;52178;52179 | chr2:178598835;178598834;178598833 | chr2:179463562;179463561;179463560 |
| N2A | 16391 | 49396;49397;49398 | chr2:178598835;178598834;178598833 | chr2:179463562;179463561;179463560 |
| N2B | 9894 | 29905;29906;29907 | chr2:178598835;178598834;178598833 | chr2:179463562;179463561;179463560 |
| Novex-1 | 10019 | 30280;30281;30282 | chr2:178598835;178598834;178598833 | chr2:179463562;179463561;179463560 |
| Novex-2 | 10086 | 30481;30482;30483 | chr2:178598835;178598834;178598833 | chr2:179463562;179463561;179463560 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs775301931  |
-1.942 | 1.0 | D | 0.876 | 0.909 | 0.877815416112 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs775301931 |
-1.942 | 1.0 | D | 0.876 | 0.909 | 0.877815416112 | gnomAD-4.0.0 | 3.18448E-06 | None | None | None | None | N | None | 0 | 4.57436E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/D | rs753144774 |
-3.212 | 1.0 | D | 0.883 | 0.929 | 0.945753610457 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65948E-04 |
| Y/N | rs753144774 |
-2.714 | 1.0 | D | 0.877 | 0.926 | None | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| Y/N | rs753144774 |
-2.714 | 1.0 | D | 0.877 | 0.926 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 0 | 0 |
| Y/N | rs753144774 |
-2.714 | 1.0 | D | 0.877 | 0.926 | None | gnomAD-4.0.0 | 6.13665E-05 | None | None | None | None | N | None | 2.67087E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.13883E-05 | 0 | 1.60138E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9948 | likely_pathogenic | 0.9939 | pathogenic | -3.266 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| Y/C | 0.8945 | likely_pathogenic | 0.904 | pathogenic | -2.153 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.65923818 | None | None | N |
| Y/D | 0.9958 | likely_pathogenic | 0.996 | pathogenic | -3.359 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.675257541 | None | None | N |
| Y/E | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -3.206 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/F | 0.281 | likely_benign | 0.3284 | benign | -1.243 | Destabilizing | 0.999 | D | 0.762 | deleterious | D | 0.607738706 | None | None | N |
| Y/G | 0.989 | likely_pathogenic | 0.9874 | pathogenic | -3.66 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| Y/H | 0.9644 | likely_pathogenic | 0.9702 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.65923818 | None | None | N |
| Y/I | 0.9519 | likely_pathogenic | 0.9364 | pathogenic | -1.975 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| Y/K | 0.9975 | likely_pathogenic | 0.9969 | pathogenic | -2.181 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| Y/L | 0.9359 | likely_pathogenic | 0.9143 | pathogenic | -1.975 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| Y/M | 0.9799 | likely_pathogenic | 0.9782 | pathogenic | -1.765 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/N | 0.9633 | likely_pathogenic | 0.9651 | pathogenic | -2.796 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.649517625 | None | None | N |
| Y/P | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -2.417 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| Y/Q | 0.997 | likely_pathogenic | 0.9968 | pathogenic | -2.674 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| Y/R | 0.9909 | likely_pathogenic | 0.9891 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| Y/S | 0.9752 | likely_pathogenic | 0.9736 | pathogenic | -3.223 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.675257541 | None | None | N |
| Y/T | 0.9881 | likely_pathogenic | 0.9873 | pathogenic | -2.956 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| Y/V | 0.9045 | likely_pathogenic | 0.8703 | pathogenic | -2.417 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| Y/W | 0.8818 | likely_pathogenic | 0.904 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.821 | 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.