Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29930 | 90013;90014;90015 | chr2:178553112;178553111;178553110 | chr2:179417839;179417838;179417837 |
| N2AB | 28289 | 85090;85091;85092 | chr2:178553112;178553111;178553110 | chr2:179417839;179417838;179417837 |
| N2A | 27362 | 82309;82310;82311 | chr2:178553112;178553111;178553110 | chr2:179417839;179417838;179417837 |
| N2B | 20865 | 62818;62819;62820 | chr2:178553112;178553111;178553110 | chr2:179417839;179417838;179417837 |
| Novex-1 | 20990 | 63193;63194;63195 | chr2:178553112;178553111;178553110 | chr2:179417839;179417838;179417837 |
| Novex-2 | 21057 | 63394;63395;63396 | chr2:178553112;178553111;178553110 | chr2:179417839;179417838;179417837 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | None | None | 0.997 | D | 0.774 | 0.759 | 0.784076694291 | gnomAD-4.0.0 | 2.05531E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70179E-06 | 0 | 0 |
| V/M | rs546141047  |
-0.383 | 1.0 | D | 0.867 | 0.78 | 0.804595444169 | 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 |
| V/M | rs546141047 |
-0.383 | 1.0 | D | 0.867 | 0.78 | 0.804595444169 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30924E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs546141047 |
-0.383 | 1.0 | D | 0.867 | 0.78 | 0.804595444169 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/M | rs546141047 |
-0.383 | 1.0 | D | 0.867 | 0.78 | 0.804595444169 | gnomAD-4.0.0 | 1.31328E-05 | None | None | None | None | N | None | 0 | 1.30753E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9584 | likely_pathogenic | 0.9466 | pathogenic | -1.86 | Destabilizing | 0.999 | D | 0.768 | deleterious | D | 0.636162849 | None | None | N |
| V/C | 0.9865 | likely_pathogenic | 0.9855 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/D | 0.9983 | likely_pathogenic | 0.9975 | pathogenic | -2.267 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| V/E | 0.9966 | likely_pathogenic | 0.9946 | pathogenic | -2.219 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.653019787 | None | None | N |
| V/F | 0.9807 | likely_pathogenic | 0.9735 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/G | 0.9607 | likely_pathogenic | 0.9491 | pathogenic | -2.218 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.653019787 | None | None | N |
| V/H | 0.9993 | likely_pathogenic | 0.9987 | pathogenic | -1.736 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| V/I | 0.2004 | likely_benign | 0.1866 | benign | -0.94 | Destabilizing | 0.998 | D | 0.741 | deleterious | None | None | None | None | N |
| V/K | 0.9979 | likely_pathogenic | 0.9965 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/L | 0.9653 | likely_pathogenic | 0.9561 | pathogenic | -0.94 | Destabilizing | 0.997 | D | 0.774 | deleterious | D | 0.602106084 | None | None | N |
| V/M | 0.9696 | likely_pathogenic | 0.9599 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.636364653 | None | None | N |
| V/N | 0.9929 | likely_pathogenic | 0.99 | pathogenic | -1.503 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| V/P | 0.9933 | likely_pathogenic | 0.99 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| V/Q | 0.9974 | likely_pathogenic | 0.9958 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| V/R | 0.9955 | likely_pathogenic | 0.9926 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/S | 0.9825 | likely_pathogenic | 0.9756 | pathogenic | -2.042 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/T | 0.9681 | likely_pathogenic | 0.9572 | pathogenic | -1.883 | Destabilizing | 0.999 | D | 0.806 | deleterious | None | None | None | None | N |
| V/W | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.686 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| V/Y | 0.9972 | likely_pathogenic | 0.9954 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.855 | 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.