Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1910 | 5953;5954;5955 | chr2:178776136;178776135;178776134 | chr2:179640863;179640862;179640861 |
| N2AB | 1910 | 5953;5954;5955 | chr2:178776136;178776135;178776134 | chr2:179640863;179640862;179640861 |
| N2A | 1910 | 5953;5954;5955 | chr2:178776136;178776135;178776134 | chr2:179640863;179640862;179640861 |
| N2B | 1864 | 5815;5816;5817 | chr2:178776136;178776135;178776134 | chr2:179640863;179640862;179640861 |
| Novex-1 | 1864 | 5815;5816;5817 | chr2:178776136;178776135;178776134 | chr2:179640863;179640862;179640861 |
| Novex-2 | 1864 | 5815;5816;5817 | chr2:178776136;178776135;178776134 | chr2:179640863;179640862;179640861 |
| Novex-3 | 1910 | 5953;5954;5955 | chr2:178776136;178776135;178776134 | chr2:179640863;179640862;179640861 |
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 | rs1322379803  |
-1.953 | 0.999 | N | 0.758 | 0.345 | 0.411531665326 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| V/A | rs1322379803 |
-1.953 | 0.999 | N | 0.758 | 0.345 | 0.411531665326 | gnomAD-4.0.0 | 6.84075E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99303E-07 | 0 | 0 |
| V/E | None | None | 1.0 | N | 0.903 | 0.528 | 0.586903838554 | gnomAD-4.0.0 | 6.84075E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99303E-07 | 0 | 0 |
| V/L | rs765618372 |
0.236 | 0.997 | N | 0.759 | 0.316 | 0.26169431596 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| V/L | rs765618372 |
0.236 | 0.997 | N | 0.759 | 0.316 | 0.26169431596 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85657E-06 | 0 | 0 |
| V/M | rs765618372 |
-0.158 | 1.0 | N | 0.801 | 0.33 | 0.263612267334 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| V/M | rs765618372 |
-0.158 | 1.0 | N | 0.801 | 0.33 | 0.263612267334 | gnomAD-4.0.0 | 3.18104E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71314E-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 | 0.9464 | likely_pathogenic | 0.944 | pathogenic | -2.254 | Highly Destabilizing | 0.999 | D | 0.758 | deleterious | N | 0.40400284 | None | None | N |
| V/C | 0.9786 | likely_pathogenic | 0.9759 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| V/D | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -3.046 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| V/E | 0.9968 | likely_pathogenic | 0.9978 | pathogenic | -2.723 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | N | 0.453720885 | None | None | N |
| V/F | 0.8416 | likely_pathogenic | 0.84 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| V/G | 0.9658 | likely_pathogenic | 0.9715 | pathogenic | -2.891 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | N | 0.453476214 | None | None | N |
| V/H | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.749 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/I | 0.1171 | likely_benign | 0.1169 | benign | -0.417 | Destabilizing | 0.998 | D | 0.669 | neutral | None | None | None | None | N |
| V/K | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -1.998 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| V/L | 0.6498 | likely_pathogenic | 0.6366 | pathogenic | -0.417 | Destabilizing | 0.997 | D | 0.759 | deleterious | N | 0.422421002 | None | None | N |
| V/M | 0.7246 | likely_pathogenic | 0.7296 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.453476214 | None | None | N |
| V/N | 0.9969 | likely_pathogenic | 0.9976 | pathogenic | -2.669 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| V/P | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| V/Q | 0.9978 | likely_pathogenic | 0.9983 | pathogenic | -2.298 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| V/R | 0.9971 | likely_pathogenic | 0.9978 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| V/S | 0.9925 | likely_pathogenic | 0.9931 | pathogenic | -3.268 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| V/T | 0.9708 | likely_pathogenic | 0.9678 | pathogenic | -2.766 | Highly Destabilizing | 0.999 | D | 0.754 | deleterious | None | None | None | None | N |
| V/W | 0.9981 | likely_pathogenic | 0.9984 | pathogenic | -1.855 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/Y | 0.9878 | likely_pathogenic | 0.9882 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.86 | 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.