Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23799 | 71620;71621;71622 | chr2:178574737;178574736;178574735 | chr2:179439464;179439463;179439462 |
| N2AB | 22158 | 66697;66698;66699 | chr2:178574737;178574736;178574735 | chr2:179439464;179439463;179439462 |
| N2A | 21231 | 63916;63917;63918 | chr2:178574737;178574736;178574735 | chr2:179439464;179439463;179439462 |
| N2B | 14734 | 44425;44426;44427 | chr2:178574737;178574736;178574735 | chr2:179439464;179439463;179439462 |
| Novex-1 | 14859 | 44800;44801;44802 | chr2:178574737;178574736;178574735 | chr2:179439464;179439463;179439462 |
| Novex-2 | 14926 | 45001;45002;45003 | chr2:178574737;178574736;178574735 | chr2:179439464;179439463;179439462 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1709458416  |
None | 0.999 | N | 0.693 | 0.534 | 0.414670632993 | gnomAD-4.0.0 | 1.59277E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77762E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9981 | likely_pathogenic | 0.9978 | pathogenic | -2.184 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| F/C | 0.984 | likely_pathogenic | 0.9806 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.551416944 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.02 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.81 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| F/G | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -2.566 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/H | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -2.265 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/I | 0.9413 | likely_pathogenic | 0.9426 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.501237873 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| F/L | 0.9929 | likely_pathogenic | 0.9931 | pathogenic | -0.913 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | N | 0.500530311 | None | None | N |
| F/M | 0.9733 | likely_pathogenic | 0.9728 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| F/N | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.726 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| F/Q | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.406 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/R | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| F/S | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -2.921 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.551416944 | None | None | N |
| F/T | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.596 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/V | 0.9553 | likely_pathogenic | 0.9556 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.484104215 | None | None | N |
| F/W | 0.9534 | likely_pathogenic | 0.9528 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| F/Y | 0.7683 | likely_pathogenic | 0.7736 | pathogenic | -1.061 | Destabilizing | 0.999 | D | 0.598 | neutral | N | 0.502584681 | 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.