Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26907 | 80944;80945;80946 | chr2:178565413;178565412;178565411 | chr2:179430140;179430139;179430138 |
| N2AB | 25266 | 76021;76022;76023 | chr2:178565413;178565412;178565411 | chr2:179430140;179430139;179430138 |
| N2A | 24339 | 73240;73241;73242 | chr2:178565413;178565412;178565411 | chr2:179430140;179430139;179430138 |
| N2B | 17842 | 53749;53750;53751 | chr2:178565413;178565412;178565411 | chr2:179430140;179430139;179430138 |
| Novex-1 | 17967 | 54124;54125;54126 | chr2:178565413;178565412;178565411 | chr2:179430140;179430139;179430138 |
| Novex-2 | 18034 | 54325;54326;54327 | chr2:178565413;178565412;178565411 | chr2:179430140;179430139;179430138 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/Q | rs375693686  |
-0.369 | 1.0 | D | 0.788 | 0.818 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | I | None | 2.4818E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/Q | rs375693686 |
-0.369 | 1.0 | D | 0.788 | 0.818 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | I | None | 1.69131E-04 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | rs375693686 |
-0.369 | 1.0 | D | 0.788 | 0.818 | None | gnomAD-4.0.0 | 1.1157E-05 | None | None | None | None | I | None | 2.27151E-04 | 1.66806E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.759 | 0.825 | 0.626257759281 | gnomAD-4.0.0 | 1.36865E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79913E-06 | 0 | 0 |
| P/T | rs776780869 |
-0.409 | 1.0 | D | 0.755 | 0.837 | 0.678982705601 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/T | rs776780869 |
-0.409 | 1.0 | D | 0.755 | 0.837 | 0.678982705601 | gnomAD-4.0.0 | 1.36865E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31916E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9573 | likely_pathogenic | 0.9682 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.587460184 | None | None | I |
| P/C | 0.9951 | likely_pathogenic | 0.996 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| P/D | 0.9908 | likely_pathogenic | 0.9923 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| P/E | 0.9849 | likely_pathogenic | 0.9889 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| P/F | 0.9973 | likely_pathogenic | 0.9977 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| P/G | 0.9818 | likely_pathogenic | 0.9852 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| P/H | 0.9842 | likely_pathogenic | 0.9867 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| P/I | 0.9803 | likely_pathogenic | 0.981 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| P/K | 0.9855 | likely_pathogenic | 0.9875 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| P/L | 0.9455 | likely_pathogenic | 0.9484 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.625476146 | None | None | I |
| P/M | 0.987 | likely_pathogenic | 0.9888 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/N | 0.9892 | likely_pathogenic | 0.99 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/Q | 0.977 | likely_pathogenic | 0.9832 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.569355929 | None | None | I |
| P/R | 0.9711 | likely_pathogenic | 0.9756 | pathogenic | -0.03 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.641091898 | None | None | I |
| P/S | 0.9836 | likely_pathogenic | 0.9875 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.557492644 | None | None | I |
| P/T | 0.9607 | likely_pathogenic | 0.9709 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.641091898 | None | None | I |
| P/V | 0.9651 | likely_pathogenic | 0.9698 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| P/W | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| P/Y | 0.9955 | likely_pathogenic | 0.9959 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
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.