Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9182 | 27769;27770;27771 | chr2:178712378;178712377;178712376 | chr2:179577105;179577104;179577103 |
| N2AB | 8865 | 26818;26819;26820 | chr2:178712378;178712377;178712376 | chr2:179577105;179577104;179577103 |
| N2A | 7938 | 24037;24038;24039 | chr2:178712378;178712377;178712376 | chr2:179577105;179577104;179577103 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs777336514  |
-2.081 | 1.0 | D | 0.856 | 0.853 | 0.892133605444 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.58423E-04 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs777336514 |
-2.081 | 1.0 | D | 0.856 | 0.853 | 0.892133605444 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs777336514 |
-2.081 | 1.0 | D | 0.856 | 0.853 | 0.892133605444 | gnomAD-4.0.0 | 8.96716E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.69681E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/F | rs777336514 |
-0.833 | 0.434 | D | 0.436 | 0.684 | 0.570825458115 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9954 | likely_pathogenic | 0.9922 | pathogenic | -2.619 | Highly Destabilizing | 0.998 | D | 0.82 | deleterious | None | None | None | None | N |
| Y/C | 0.9354 | likely_pathogenic | 0.8861 | pathogenic | -2.155 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.661084829 | None | None | N |
| Y/D | 0.9967 | likely_pathogenic | 0.9945 | pathogenic | -3.104 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.661084829 | None | None | N |
| Y/E | 0.9981 | likely_pathogenic | 0.9967 | pathogenic | -2.864 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| Y/F | 0.2101 | likely_benign | 0.1803 | benign | -0.993 | Destabilizing | 0.434 | N | 0.436 | neutral | D | 0.594555374 | None | None | N |
| Y/G | 0.9913 | likely_pathogenic | 0.9864 | pathogenic | -3.082 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| Y/H | 0.9703 | likely_pathogenic | 0.9545 | pathogenic | -2.182 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.644863664 | None | None | N |
| Y/I | 0.878 | likely_pathogenic | 0.8241 | pathogenic | -1.089 | Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | N |
| Y/K | 0.9984 | likely_pathogenic | 0.997 | pathogenic | -2.188 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| Y/L | 0.8233 | likely_pathogenic | 0.7809 | pathogenic | -1.089 | Destabilizing | 0.994 | D | 0.765 | deleterious | None | None | None | None | N |
| Y/M | 0.9564 | likely_pathogenic | 0.931 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| Y/N | 0.9815 | likely_pathogenic | 0.9693 | pathogenic | -3.093 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.661084829 | None | None | N |
| Y/P | 0.9992 | likely_pathogenic | 0.9986 | pathogenic | -1.614 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| Y/Q | 0.9978 | likely_pathogenic | 0.9958 | pathogenic | -2.686 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| Y/R | 0.9947 | likely_pathogenic | 0.9912 | pathogenic | -2.27 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| Y/S | 0.9917 | likely_pathogenic | 0.9866 | pathogenic | -3.482 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.661084829 | None | None | N |
| Y/T | 0.9951 | likely_pathogenic | 0.9914 | pathogenic | -3.095 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| Y/V | 0.8703 | likely_pathogenic | 0.8198 | pathogenic | -1.614 | Destabilizing | 0.997 | D | 0.785 | deleterious | None | None | None | None | N |
| Y/W | 0.7402 | likely_pathogenic | 0.7364 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | 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.