Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21145 | 63658;63659;63660 | chr2:178587974;178587973;178587972 | chr2:179452701;179452700;179452699 |
| N2AB | 19504 | 58735;58736;58737 | chr2:178587974;178587973;178587972 | chr2:179452701;179452700;179452699 |
| N2A | 18577 | 55954;55955;55956 | chr2:178587974;178587973;178587972 | chr2:179452701;179452700;179452699 |
| N2B | 12080 | 36463;36464;36465 | chr2:178587974;178587973;178587972 | chr2:179452701;179452700;179452699 |
| Novex-1 | 12205 | 36838;36839;36840 | chr2:178587974;178587973;178587972 | chr2:179452701;179452700;179452699 |
| Novex-2 | 12272 | 37039;37040;37041 | chr2:178587974;178587973;178587972 | chr2:179452701;179452700;179452699 |
| 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/A | None | None | 0.999 | D | 0.636 | 0.809 | 0.797878369283 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/L | None | None | 0.997 | N | 0.654 | 0.657 | 0.706577926717 | gnomAD-4.0.0 | 6.85038E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00079E-07 | 0 | 0 |
| V/M | rs768769006  |
-1.184 | 1.0 | D | 0.808 | 0.735 | 0.74921544876 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| V/M | rs768769006 |
-1.184 | 1.0 | D | 0.808 | 0.735 | 0.74921544876 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| V/M | rs768769006 |
-1.184 | 1.0 | D | 0.808 | 0.735 | 0.74921544876 | gnomAD-4.0.0 | 3.10217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48197E-07 | 3.30106E-05 | 1.60344E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6722 | likely_pathogenic | 0.6868 | pathogenic | -2.523 | Highly Destabilizing | 0.999 | D | 0.636 | neutral | D | 0.554619035 | None | None | N |
| V/C | 0.9052 | likely_pathogenic | 0.9237 | pathogenic | -1.867 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| V/D | 0.9953 | likely_pathogenic | 0.9951 | pathogenic | -3.402 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| V/E | 0.9888 | likely_pathogenic | 0.9882 | pathogenic | -3.105 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.63668077 | None | None | N |
| V/F | 0.8605 | likely_pathogenic | 0.8658 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/G | 0.796 | likely_pathogenic | 0.7922 | pathogenic | -3.062 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.63668077 | None | None | N |
| V/H | 0.9966 | likely_pathogenic | 0.9969 | pathogenic | -2.844 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/I | 0.1225 | likely_benign | 0.1216 | benign | -0.93 | Destabilizing | 0.998 | D | 0.627 | neutral | None | None | None | None | N |
| V/K | 0.9931 | likely_pathogenic | 0.993 | pathogenic | -2.05 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| V/L | 0.6152 | likely_pathogenic | 0.6082 | pathogenic | -0.93 | Destabilizing | 0.997 | D | 0.654 | neutral | N | 0.51863388 | None | None | N |
| V/M | 0.7365 | likely_pathogenic | 0.7549 | pathogenic | -1.218 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.543516219 | None | None | N |
| V/N | 0.9849 | likely_pathogenic | 0.9849 | pathogenic | -2.71 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/P | 0.9904 | likely_pathogenic | 0.9902 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/Q | 0.9866 | likely_pathogenic | 0.9871 | pathogenic | -2.384 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/R | 0.9825 | likely_pathogenic | 0.9817 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| V/S | 0.9134 | likely_pathogenic | 0.9165 | pathogenic | -3.142 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| V/T | 0.8662 | likely_pathogenic | 0.8761 | pathogenic | -2.71 | Highly Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/W | 0.9974 | likely_pathogenic | 0.9976 | pathogenic | -1.918 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| V/Y | 0.9829 | likely_pathogenic | 0.984 | pathogenic | -1.708 | Destabilizing | 1.0 | D | 0.842 | 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.