Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29704 | 89335;89336;89337 | chr2:178554001;178554000;178553999 | chr2:179418728;179418727;179418726 |
| N2AB | 28063 | 84412;84413;84414 | chr2:178554001;178554000;178553999 | chr2:179418728;179418727;179418726 |
| N2A | 27136 | 81631;81632;81633 | chr2:178554001;178554000;178553999 | chr2:179418728;179418727;179418726 |
| N2B | 20639 | 62140;62141;62142 | chr2:178554001;178554000;178553999 | chr2:179418728;179418727;179418726 |
| Novex-1 | 20764 | 62515;62516;62517 | chr2:178554001;178554000;178553999 | chr2:179418728;179418727;179418726 |
| Novex-2 | 20831 | 62716;62717;62718 | chr2:178554001;178554000;178553999 | chr2:179418728;179418727;179418726 |
| 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 | rs727504503  |
-2.204 | 1.0 | D | 0.879 | 0.924 | 0.892366412229 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs727504503 |
-2.204 | 1.0 | D | 0.879 | 0.924 | 0.892366412229 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.3089E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs727504503 |
-2.204 | 1.0 | D | 0.879 | 0.924 | 0.892366412229 | gnomAD-4.0.0 | 4.33887E-06 | None | None | None | None | N | None | 0 | 4.99983E-05 | None | 0 | 0 | None | 0 | 0 | 2.54277E-06 | 0 | 1.60118E-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 | 0.9824 | likely_pathogenic | 0.9848 | pathogenic | -3.517 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/C | 0.7217 | likely_pathogenic | 0.7174 | pathogenic | -2.104 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.672935895 | None | None | N |
| Y/D | 0.9876 | likely_pathogenic | 0.9894 | pathogenic | -3.721 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.68918742 | None | None | N |
| Y/E | 0.994 | likely_pathogenic | 0.9952 | pathogenic | -3.526 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| Y/F | 0.1535 | likely_benign | 0.1267 | benign | -1.361 | Destabilizing | 0.999 | D | 0.755 | deleterious | D | 0.622829409 | None | None | N |
| Y/G | 0.9759 | likely_pathogenic | 0.9792 | pathogenic | -3.919 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| Y/H | 0.9021 | likely_pathogenic | 0.899 | pathogenic | -2.407 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.663649309 | None | None | N |
| Y/I | 0.8008 | likely_pathogenic | 0.7853 | pathogenic | -2.165 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| Y/K | 0.994 | likely_pathogenic | 0.9943 | pathogenic | -2.399 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| Y/L | 0.8415 | likely_pathogenic | 0.8399 | pathogenic | -2.165 | Highly Destabilizing | 0.999 | D | 0.82 | deleterious | None | None | None | None | N |
| Y/M | 0.9292 | likely_pathogenic | 0.9238 | pathogenic | -1.907 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| Y/N | 0.9121 | likely_pathogenic | 0.9253 | pathogenic | -3.129 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.663447504 | None | None | N |
| Y/P | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -2.633 | Highly Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| Y/Q | 0.9868 | likely_pathogenic | 0.9892 | pathogenic | -2.928 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| Y/R | 0.9812 | likely_pathogenic | 0.982 | pathogenic | -2.012 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| Y/S | 0.9323 | likely_pathogenic | 0.9422 | pathogenic | -3.503 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | D | 0.68918742 | None | None | N |
| Y/T | 0.9625 | likely_pathogenic | 0.9667 | pathogenic | -3.193 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| Y/V | 0.7081 | likely_pathogenic | 0.6949 | pathogenic | -2.633 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| Y/W | 0.8169 | likely_pathogenic | 0.8067 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.804 | 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.