Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24358 | 73297;73298;73299 | chr2:178573060;178573059;178573058 | chr2:179437787;179437786;179437785 |
| N2AB | 22717 | 68374;68375;68376 | chr2:178573060;178573059;178573058 | chr2:179437787;179437786;179437785 |
| N2A | 21790 | 65593;65594;65595 | chr2:178573060;178573059;178573058 | chr2:179437787;179437786;179437785 |
| N2B | 15293 | 46102;46103;46104 | chr2:178573060;178573059;178573058 | chr2:179437787;179437786;179437785 |
| Novex-1 | 15418 | 46477;46478;46479 | chr2:178573060;178573059;178573058 | chr2:179437787;179437786;179437785 |
| Novex-2 | 15485 | 46678;46679;46680 | chr2:178573060;178573059;178573058 | chr2:179437787;179437786;179437785 |
| 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 | rs368124487  |
-1.669 | 1.0 | D | 0.847 | 0.845 | 0.862383912981 | 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 |
| Y/C | rs368124487 |
-1.669 | 1.0 | D | 0.847 | 0.845 | 0.862383912981 | gnomAD-4.0.0 | 1.36888E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99638E-07 | 1.15955E-05 | 0 |
| Y/F | rs368124487 |
-1.137 | 0.999 | N | 0.655 | 0.707 | None | gnomAD-2.1.1 | 5.01E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.01682E-04 | 0 |
| Y/F | rs368124487 |
-1.137 | 0.999 | N | 0.655 | 0.707 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.32396E-04 | 0 | 0 |
| Y/F | rs368124487 |
-1.137 | 0.999 | N | 0.655 | 0.707 | None | gnomAD-4.0.0 | 1.00427E-04 | None | None | None | None | N | None | 2.67073E-05 | 1.668E-05 | None | 0 | 0 | None | 0 | 0 | 1.32255E-04 | 0 | 4.80538E-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 | 0.9981 | likely_pathogenic | 0.9974 | pathogenic | -3.521 | Highly Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| Y/C | 0.9428 | likely_pathogenic | 0.9199 | pathogenic | -2.189 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.652042921 | None | None | N |
| Y/D | 0.9974 | likely_pathogenic | 0.9967 | pathogenic | -3.817 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.652244725 | None | None | N |
| Y/E | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -3.596 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| Y/F | 0.3618 | ambiguous | 0.3177 | benign | -1.358 | Destabilizing | 0.999 | D | 0.655 | neutral | N | 0.51114237 | None | None | N |
| Y/G | 0.9927 | likely_pathogenic | 0.9917 | pathogenic | -3.952 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| Y/H | 0.9852 | likely_pathogenic | 0.9802 | pathogenic | -2.512 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.626303005 | None | None | N |
| Y/I | 0.9866 | likely_pathogenic | 0.9831 | pathogenic | -2.063 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| Y/K | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.631 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| Y/L | 0.9667 | likely_pathogenic | 0.9598 | pathogenic | -2.063 | Highly Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| Y/M | 0.9904 | likely_pathogenic | 0.9871 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| Y/N | 0.9807 | likely_pathogenic | 0.9753 | pathogenic | -3.458 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.652244725 | None | None | N |
| Y/P | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.568 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/Q | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -3.176 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| Y/R | 0.996 | likely_pathogenic | 0.9954 | pathogenic | -2.386 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| Y/S | 0.9901 | likely_pathogenic | 0.9876 | pathogenic | -3.817 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.652244725 | None | None | N |
| Y/T | 0.9971 | likely_pathogenic | 0.9962 | pathogenic | -3.472 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/V | 0.9758 | likely_pathogenic | 0.97 | pathogenic | -2.568 | Highly Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| Y/W | 0.8958 | likely_pathogenic | 0.8723 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.793 | 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.