Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20685 | 62278;62279;62280 | chr2:178589672;178589671;178589670 | chr2:179454399;179454398;179454397 |
| N2AB | 19044 | 57355;57356;57357 | chr2:178589672;178589671;178589670 | chr2:179454399;179454398;179454397 |
| N2A | 18117 | 54574;54575;54576 | chr2:178589672;178589671;178589670 | chr2:179454399;179454398;179454397 |
| N2B | 11620 | 35083;35084;35085 | chr2:178589672;178589671;178589670 | chr2:179454399;179454398;179454397 |
| Novex-1 | 11745 | 35458;35459;35460 | chr2:178589672;178589671;178589670 | chr2:179454399;179454398;179454397 |
| Novex-2 | 11812 | 35659;35660;35661 | chr2:178589672;178589671;178589670 | chr2:179454399;179454398;179454397 |
| 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/F | rs748181916  |
-1.467 | 1.0 | N | 0.871 | 0.389 | 0.823912887751 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs748181916 |
-1.467 | 1.0 | N | 0.871 | 0.389 | 0.823912887751 | gnomAD-4.0.0 | 4.1059E-06 | None | None | None | None | N | None | 0 | 4.47347E-05 | None | 0 | 0 | None | 0 | 0 | 3.59833E-06 | 0 | 0 |
| V/I | rs748181916 |
-0.008 | 0.997 | N | 0.507 | 0.268 | 0.468253365638 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 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 | 0.8481 | likely_pathogenic | 0.8515 | pathogenic | -1.765 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.496722237 | None | None | N |
| V/C | 0.8937 | likely_pathogenic | 0.9001 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| V/D | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -2.646 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.515800637 | None | None | N |
| V/E | 0.998 | likely_pathogenic | 0.9967 | pathogenic | -2.309 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/F | 0.9284 | likely_pathogenic | 0.9156 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.495161487 | None | None | N |
| V/G | 0.9577 | likely_pathogenic | 0.9511 | pathogenic | -2.396 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | N | 0.503430373 | None | None | N |
| V/H | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -2.491 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| V/I | 0.133 | likely_benign | 0.1337 | benign | 0.067 | Stabilizing | 0.997 | D | 0.507 | neutral | N | 0.47180515 | None | None | N |
| V/K | 0.9984 | likely_pathogenic | 0.9975 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/L | 0.6902 | likely_pathogenic | 0.6779 | pathogenic | 0.067 | Stabilizing | 0.997 | D | 0.598 | neutral | N | 0.491521487 | None | None | N |
| V/M | 0.8598 | likely_pathogenic | 0.8562 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/N | 0.9967 | likely_pathogenic | 0.9949 | pathogenic | -1.967 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| V/P | 0.9982 | likely_pathogenic | 0.9975 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/Q | 0.9952 | likely_pathogenic | 0.9937 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| V/R | 0.9944 | likely_pathogenic | 0.9914 | pathogenic | -1.597 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/S | 0.9685 | likely_pathogenic | 0.9607 | pathogenic | -2.454 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| V/T | 0.8885 | likely_pathogenic | 0.8756 | pathogenic | -1.942 | Destabilizing | 0.999 | D | 0.622 | neutral | None | None | None | None | N |
| V/W | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/Y | 0.9937 | likely_pathogenic | 0.9915 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.881 | 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.