Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30165 | 90718;90719;90720 | chr2:178552407;178552406;178552405 | chr2:179417134;179417133;179417132 |
| N2AB | 28524 | 85795;85796;85797 | chr2:178552407;178552406;178552405 | chr2:179417134;179417133;179417132 |
| N2A | 27597 | 83014;83015;83016 | chr2:178552407;178552406;178552405 | chr2:179417134;179417133;179417132 |
| N2B | 21100 | 63523;63524;63525 | chr2:178552407;178552406;178552405 | chr2:179417134;179417133;179417132 |
| Novex-1 | 21225 | 63898;63899;63900 | chr2:178552407;178552406;178552405 | chr2:179417134;179417133;179417132 |
| Novex-2 | 21292 | 64099;64100;64101 | chr2:178552407;178552406;178552405 | chr2:179417134;179417133;179417132 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs761010373  |
-0.736 | 1.0 | D | 0.827 | 0.863 | 0.867892837264 | gnomAD-2.1.1 | 4.24E-06 | None | None | None | None | N | None | 6.51E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs761010373 |
-0.736 | 1.0 | D | 0.827 | 0.863 | 0.867892837264 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs761010373 |
-0.736 | 1.0 | D | 0.827 | 0.863 | 0.867892837264 | gnomAD-4.0.0 | 6.57151E-06 | None | None | None | None | N | None | 2.41301E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/S | None | None | 1.0 | D | 0.87 | 0.827 | 0.951261571319 | gnomAD-4.0.0 | 2.08219E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.81932E-06 | 0 | 1.68413E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9793 | likely_pathogenic | 0.9632 | pathogenic | -2.211 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/C | 0.9792 | likely_pathogenic | 0.9616 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.690064232 | None | None | N |
| W/D | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.916 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| W/E | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -2.778 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/F | 0.2319 | likely_benign | 0.2012 | benign | -1.326 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/G | 0.9618 | likely_pathogenic | 0.9471 | pathogenic | -2.473 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.689862427 | None | None | N |
| W/H | 0.9934 | likely_pathogenic | 0.992 | pathogenic | -1.958 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/I | 0.7781 | likely_pathogenic | 0.6975 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/K | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.304 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/L | 0.5639 | ambiguous | 0.4773 | ambiguous | -1.246 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.689862427 | None | None | N |
| W/M | 0.8855 | likely_pathogenic | 0.8395 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/N | 0.9987 | likely_pathogenic | 0.998 | pathogenic | -3.114 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| W/P | 0.9966 | likely_pathogenic | 0.9959 | pathogenic | -1.594 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/Q | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -2.777 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/R | 0.9985 | likely_pathogenic | 0.9979 | pathogenic | -2.454 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.690064231 | None | None | N |
| W/S | 0.9886 | likely_pathogenic | 0.9795 | pathogenic | -3.186 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.690064231 | None | None | N |
| W/T | 0.9879 | likely_pathogenic | 0.9759 | pathogenic | -2.965 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/V | 0.8189 | likely_pathogenic | 0.7397 | pathogenic | -1.594 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/Y | 0.8212 | likely_pathogenic | 0.7615 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.804 | 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.