Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18062 | 54409;54410;54411 | chr2:178604993;178604992;178604991 | chr2:179469720;179469719;179469718 |
| N2AB | 16421 | 49486;49487;49488 | chr2:178604993;178604992;178604991 | chr2:179469720;179469719;179469718 |
| N2A | 15494 | 46705;46706;46707 | chr2:178604993;178604992;178604991 | chr2:179469720;179469719;179469718 |
| N2B | 8997 | 27214;27215;27216 | chr2:178604993;178604992;178604991 | chr2:179469720;179469719;179469718 |
| Novex-1 | 9122 | 27589;27590;27591 | chr2:178604993;178604992;178604991 | chr2:179469720;179469719;179469718 |
| Novex-2 | 9189 | 27790;27791;27792 | chr2:178604993;178604992;178604991 | chr2:179469720;179469719;179469718 |
| 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 | 0.76 | 0.798 | 0.818642530711 | gnomAD-4.0.0 | 1.64082E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.94702E-06 | 0 | 0 |
| V/E | rs753606067  |
-1.974 | 1.0 | D | 0.883 | 0.839 | 0.842374672565 | gnomAD-2.1.1 | 4.25E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.34E-06 | 0 |
| V/E | rs753606067 |
-1.974 | 1.0 | D | 0.883 | 0.839 | 0.842374672565 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07727E-04 | 0 |
| V/E | rs753606067 |
-1.974 | 1.0 | D | 0.883 | 0.839 | 0.842374672565 | gnomAD-4.0.0 | 2.6268E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.45541E-06 | 1.40029E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9509 | likely_pathogenic | 0.952 | pathogenic | -2.05 | Highly Destabilizing | 0.999 | D | 0.76 | deleterious | D | 0.610160408 | None | None | N |
| V/C | 0.9853 | likely_pathogenic | 0.9861 | pathogenic | -1.574 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/D | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -2.631 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/E | 0.9959 | likely_pathogenic | 0.9955 | pathogenic | -2.529 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.610765821 | None | None | N |
| V/F | 0.9665 | likely_pathogenic | 0.963 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| V/G | 0.9605 | likely_pathogenic | 0.9583 | pathogenic | -2.46 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.610765821 | None | None | N |
| V/H | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -2.007 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/I | 0.1177 | likely_benign | 0.1173 | benign | -0.95 | Destabilizing | 0.997 | D | 0.733 | prob.delet. | N | 0.514791575 | None | None | N |
| V/K | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/L | 0.9256 | likely_pathogenic | 0.9226 | pathogenic | -0.95 | Destabilizing | 0.997 | D | 0.759 | deleterious | D | 0.582604253 | None | None | N |
| V/M | 0.9104 | likely_pathogenic | 0.911 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| V/N | 0.9872 | likely_pathogenic | 0.9864 | pathogenic | -1.71 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/P | 0.9921 | likely_pathogenic | 0.9924 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| V/Q | 0.9971 | likely_pathogenic | 0.9969 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| V/R | 0.996 | likely_pathogenic | 0.9954 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/S | 0.9779 | likely_pathogenic | 0.9773 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| V/T | 0.9093 | likely_pathogenic | 0.9209 | pathogenic | -2.029 | Highly Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| V/W | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.657 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/Y | 0.996 | likely_pathogenic | 0.9956 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.909 | 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.