Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25375 | 76348;76349;76350 | chr2:178570009;178570008;178570007 | chr2:179434736;179434735;179434734 |
| N2AB | 23734 | 71425;71426;71427 | chr2:178570009;178570008;178570007 | chr2:179434736;179434735;179434734 |
| N2A | 22807 | 68644;68645;68646 | chr2:178570009;178570008;178570007 | chr2:179434736;179434735;179434734 |
| N2B | 16310 | 49153;49154;49155 | chr2:178570009;178570008;178570007 | chr2:179434736;179434735;179434734 |
| Novex-1 | 16435 | 49528;49529;49530 | chr2:178570009;178570008;178570007 | chr2:179434736;179434735;179434734 |
| Novex-2 | 16502 | 49729;49730;49731 | chr2:178570009;178570008;178570007 | chr2:179434736;179434735;179434734 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/F | rs374494927  |
-1.334 | 0.999 | D | 0.745 | 0.797 | None | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | N | None | 6.46E-05 | 1.45332E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 1.66611E-04 |
| Y/F | rs374494927 |
-1.334 | 0.999 | D | 0.745 | 0.797 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/F | rs374494927 |
-1.334 | 0.999 | D | 0.745 | 0.797 | None | gnomAD-4.0.0 | 8.05959E-06 | None | None | None | None | N | None | 1.33568E-05 | 1.16791E-04 | None | 0 | 0 | None | 0 | 0 | 1.69572E-06 | 0 | 4.80523E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9852 | likely_pathogenic | 0.9756 | pathogenic | -3.557 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/C | 0.7922 | likely_pathogenic | 0.669 | pathogenic | -2.019 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.662024156 | None | None | N |
| Y/D | 0.9908 | likely_pathogenic | 0.9886 | pathogenic | -3.867 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.687562268 | None | None | N |
| Y/E | 0.9963 | likely_pathogenic | 0.9946 | pathogenic | -3.674 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| Y/F | 0.2341 | likely_benign | 0.2027 | benign | -1.389 | Destabilizing | 0.999 | D | 0.745 | deleterious | D | 0.614239317 | None | None | N |
| Y/G | 0.9767 | likely_pathogenic | 0.9706 | pathogenic | -3.932 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| Y/H | 0.9474 | likely_pathogenic | 0.923 | pathogenic | -2.518 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.662024156 | None | None | N |
| Y/I | 0.9093 | likely_pathogenic | 0.8427 | pathogenic | -2.279 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| Y/K | 0.9955 | likely_pathogenic | 0.9934 | pathogenic | -2.503 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| Y/L | 0.8829 | likely_pathogenic | 0.829 | pathogenic | -2.279 | Highly Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| Y/M | 0.9479 | likely_pathogenic | 0.9078 | pathogenic | -1.967 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/N | 0.9432 | likely_pathogenic | 0.9217 | pathogenic | -3.227 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.671341102 | None | None | N |
| Y/P | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -2.724 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| Y/Q | 0.9937 | likely_pathogenic | 0.9892 | pathogenic | -3.02 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| Y/R | 0.9843 | likely_pathogenic | 0.977 | pathogenic | -2.145 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| Y/S | 0.9545 | likely_pathogenic | 0.9362 | pathogenic | -3.533 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.662024156 | None | None | N |
| Y/T | 0.9743 | likely_pathogenic | 0.9585 | pathogenic | -3.236 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| Y/V | 0.8115 | likely_pathogenic | 0.6873 | pathogenic | -2.724 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| Y/W | 0.8283 | likely_pathogenic | 0.8195 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.827 | 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.