Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3328 | 10207;10208;10209 | chr2:178764533;178764532;178764531 | chr2:179629260;179629259;179629258 |
| N2AB | 3328 | 10207;10208;10209 | chr2:178764533;178764532;178764531 | chr2:179629260;179629259;179629258 |
| N2A | 3328 | 10207;10208;10209 | chr2:178764533;178764532;178764531 | chr2:179629260;179629259;179629258 |
| N2B | 3282 | 10069;10070;10071 | chr2:178764533;178764532;178764531 | chr2:179629260;179629259;179629258 |
| Novex-1 | 3282 | 10069;10070;10071 | chr2:178764533;178764532;178764531 | chr2:179629260;179629259;179629258 |
| Novex-2 | 3282 | 10069;10070;10071 | chr2:178764533;178764532;178764531 | chr2:179629260;179629259;179629258 |
| Novex-3 | 3328 | 10207;10208;10209 | chr2:178764533;178764532;178764531 | chr2:179629260;179629259;179629258 |
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 | rs1060500412  |
-1.346 | 0.999 | D | 0.745 | 0.795 | 0.81781866485 | gnomAD-2.1.1 | 7.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/A | rs1060500412 |
-1.346 | 0.999 | D | 0.745 | 0.795 | 0.81781866485 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/A | rs1060500412 |
-1.346 | 0.999 | D | 0.745 | 0.795 | 0.81781866485 | gnomAD-4.0.0 | 1.549E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.03392E-05 | 0 | 1.60077E-05 |
| V/L | None | None | 0.997 | D | 0.751 | 0.687 | 0.69811077665 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7908 | likely_pathogenic | 0.8286 | pathogenic | -1.681 | Destabilizing | 0.999 | D | 0.745 | deleterious | D | 0.805250353 | None | None | N |
| V/C | 0.9853 | likely_pathogenic | 0.9853 | pathogenic | -1.56 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/D | 0.9955 | likely_pathogenic | 0.997 | pathogenic | -2.25 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| V/E | 0.9763 | likely_pathogenic | 0.9836 | pathogenic | -2.233 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.804496839 | None | None | N |
| V/F | 0.874 | likely_pathogenic | 0.9078 | pathogenic | -1.407 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/G | 0.9324 | likely_pathogenic | 0.9423 | pathogenic | -1.98 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.769780768 | None | None | N |
| V/H | 0.9972 | likely_pathogenic | 0.998 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/I | 0.1282 | likely_benign | 0.1461 | benign | -0.939 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| V/K | 0.9865 | likely_pathogenic | 0.9906 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/L | 0.6834 | likely_pathogenic | 0.7408 | pathogenic | -0.939 | Destabilizing | 0.997 | D | 0.751 | deleterious | D | 0.752051582 | None | None | N |
| V/M | 0.6233 | likely_pathogenic | 0.6677 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.748878303 | None | None | N |
| V/N | 0.9875 | likely_pathogenic | 0.9908 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| V/P | 0.9847 | likely_pathogenic | 0.9873 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/Q | 0.9834 | likely_pathogenic | 0.9879 | pathogenic | -1.531 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/R | 0.9794 | likely_pathogenic | 0.9845 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/S | 0.9415 | likely_pathogenic | 0.9524 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| V/T | 0.7813 | likely_pathogenic | 0.8182 | pathogenic | -1.654 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| V/W | 0.9978 | likely_pathogenic | 0.9985 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| V/Y | 0.993 | likely_pathogenic | 0.9953 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.865 | 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.