Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19023 | 57292;57293;57294 | chr2:178598550;178598549;178598548 | chr2:179463277;179463276;179463275 |
| N2AB | 17382 | 52369;52370;52371 | chr2:178598550;178598549;178598548 | chr2:179463277;179463276;179463275 |
| N2A | 16455 | 49588;49589;49590 | chr2:178598550;178598549;178598548 | chr2:179463277;179463276;179463275 |
| N2B | 9958 | 30097;30098;30099 | chr2:178598550;178598549;178598548 | chr2:179463277;179463276;179463275 |
| Novex-1 | 10083 | 30472;30473;30474 | chr2:178598550;178598549;178598548 | chr2:179463277;179463276;179463275 |
| Novex-2 | 10150 | 30673;30674;30675 | chr2:178598550;178598549;178598548 | chr2:179463277;179463276;179463275 |
| 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/N | rs572368746  |
-3.534 | 1.0 | D | 0.892 | 0.847 | 0.909959692653 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.43E-05 | None | 0 | 0 | 0 |
| Y/N | rs572368746 |
-3.534 | 1.0 | D | 0.892 | 0.847 | 0.909959692653 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| Y/N | rs572368746 |
-3.534 | 1.0 | D | 0.892 | 0.847 | 0.909959692653 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| Y/N | rs572368746 |
-3.534 | 1.0 | D | 0.892 | 0.847 | 0.909959692653 | gnomAD-4.0.0 | 6.57454E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -3.67 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| Y/C | 0.9492 | likely_pathogenic | 0.942 | pathogenic | -2.053 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.64327959 | None | None | N |
| Y/D | 0.997 | likely_pathogenic | 0.997 | pathogenic | -3.98 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.643683199 | None | None | N |
| Y/E | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -3.77 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| Y/F | 0.315 | likely_benign | 0.3251 | benign | -1.515 | Destabilizing | 0.999 | D | 0.632 | neutral | D | 0.547599188 | None | None | N |
| Y/G | 0.9936 | likely_pathogenic | 0.9924 | pathogenic | -4.063 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| Y/H | 0.9873 | likely_pathogenic | 0.9854 | pathogenic | -2.713 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.64327959 | None | None | N |
| Y/I | 0.9868 | likely_pathogenic | 0.9844 | pathogenic | -2.326 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| Y/K | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -2.646 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| Y/L | 0.9782 | likely_pathogenic | 0.9748 | pathogenic | -2.326 | Highly Destabilizing | 0.999 | D | 0.75 | deleterious | None | None | None | None | N |
| Y/M | 0.9903 | likely_pathogenic | 0.9897 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/N | 0.982 | likely_pathogenic | 0.9805 | pathogenic | -3.424 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.643683199 | None | None | N |
| Y/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.794 | Highly Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| Y/Q | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -3.173 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/R | 0.997 | likely_pathogenic | 0.9959 | pathogenic | -2.358 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| Y/S | 0.9925 | likely_pathogenic | 0.9914 | pathogenic | -3.715 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.643683199 | None | None | N |
| Y/T | 0.998 | likely_pathogenic | 0.9976 | pathogenic | -3.392 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| Y/V | 0.9791 | likely_pathogenic | 0.9753 | pathogenic | -2.794 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| Y/W | 0.8505 | likely_pathogenic | 0.8643 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.796 | 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.