Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30191 | 90796;90797;90798 | chr2:178552329;178552328;178552327 | chr2:179417056;179417055;179417054 |
| N2AB | 28550 | 85873;85874;85875 | chr2:178552329;178552328;178552327 | chr2:179417056;179417055;179417054 |
| N2A | 27623 | 83092;83093;83094 | chr2:178552329;178552328;178552327 | chr2:179417056;179417055;179417054 |
| N2B | 21126 | 63601;63602;63603 | chr2:178552329;178552328;178552327 | chr2:179417056;179417055;179417054 |
| Novex-1 | 21251 | 63976;63977;63978 | chr2:178552329;178552328;178552327 | chr2:179417056;179417055;179417054 |
| Novex-2 | 21318 | 64177;64178;64179 | chr2:178552329;178552328;178552327 | chr2:179417056;179417055;179417054 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | None | None | 0.961 | D | 0.717 | 0.762 | 0.856007427658 | gnomAD-4.0.0 | 2.06318E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.8033E-06 | 1.18751E-05 | 0 |
| I/V | rs746824077  |
-1.605 | 0.122 | D | 0.286 | 0.382 | 0.541512316009 | gnomAD-2.1.1 | 1.11E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.22E-05 | None | 0 | 8E-06 | 0 |
| I/V | rs746824077 |
-1.605 | 0.122 | D | 0.286 | 0.382 | 0.541512316009 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs746824077 |
-1.605 | 0.122 | D | 0.286 | 0.382 | 0.541512316009 | gnomAD-4.0.0 | 3.11628E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.50011E-07 | 4.51101E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9265 | likely_pathogenic | 0.9017 | pathogenic | -2.775 | Highly Destabilizing | 0.931 | D | 0.729 | prob.delet. | None | None | None | None | N |
| I/C | 0.9061 | likely_pathogenic | 0.8845 | pathogenic | -2.149 | Highly Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| I/D | 0.9969 | likely_pathogenic | 0.9944 | pathogenic | -3.143 | Highly Destabilizing | 0.999 | D | 0.858 | deleterious | None | None | None | None | N |
| I/E | 0.9897 | likely_pathogenic | 0.9831 | pathogenic | -2.935 | Highly Destabilizing | 0.999 | D | 0.848 | deleterious | None | None | None | None | N |
| I/F | 0.3424 | ambiguous | 0.2939 | benign | -1.725 | Destabilizing | 0.994 | D | 0.725 | prob.delet. | D | 0.568542214 | None | None | N |
| I/G | 0.9865 | likely_pathogenic | 0.9785 | pathogenic | -3.327 | Highly Destabilizing | 0.999 | D | 0.836 | deleterious | None | None | None | None | N |
| I/H | 0.9741 | likely_pathogenic | 0.9602 | pathogenic | -2.759 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| I/K | 0.9731 | likely_pathogenic | 0.9582 | pathogenic | -2.261 | Highly Destabilizing | 0.999 | D | 0.85 | deleterious | None | None | None | None | N |
| I/L | 0.1897 | likely_benign | 0.1854 | benign | -1.18 | Destabilizing | 0.689 | D | 0.429 | neutral | D | 0.572912806 | None | None | N |
| I/M | 0.207 | likely_benign | 0.1862 | benign | -1.067 | Destabilizing | 0.994 | D | 0.709 | prob.delet. | D | 0.589265589 | None | None | N |
| I/N | 0.9607 | likely_pathogenic | 0.9326 | pathogenic | -2.56 | Highly Destabilizing | 0.998 | D | 0.855 | deleterious | D | 0.606929745 | None | None | N |
| I/P | 0.9943 | likely_pathogenic | 0.9914 | pathogenic | -1.693 | Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | N |
| I/Q | 0.968 | likely_pathogenic | 0.9497 | pathogenic | -2.453 | Highly Destabilizing | 0.999 | D | 0.856 | deleterious | None | None | None | None | N |
| I/R | 0.9586 | likely_pathogenic | 0.9356 | pathogenic | -1.877 | Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | None | N |
| I/S | 0.9508 | likely_pathogenic | 0.9253 | pathogenic | -3.267 | Highly Destabilizing | 0.994 | D | 0.819 | deleterious | D | 0.622949106 | None | None | N |
| I/T | 0.9332 | likely_pathogenic | 0.9141 | pathogenic | -2.912 | Highly Destabilizing | 0.961 | D | 0.717 | prob.delet. | D | 0.597007385 | None | None | N |
| I/V | 0.1176 | likely_benign | 0.1297 | benign | -1.693 | Destabilizing | 0.122 | N | 0.286 | neutral | D | 0.552642303 | None | None | N |
| I/W | 0.9497 | likely_pathogenic | 0.9269 | pathogenic | -2.13 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| I/Y | 0.9008 | likely_pathogenic | 0.8444 | pathogenic | -1.883 | Destabilizing | 0.999 | D | 0.771 | 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.