Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27732 | 83419;83420;83421 | chr2:178562938;178562937;178562936 | chr2:179427665;179427664;179427663 |
| N2AB | 26091 | 78496;78497;78498 | chr2:178562938;178562937;178562936 | chr2:179427665;179427664;179427663 |
| N2A | 25164 | 75715;75716;75717 | chr2:178562938;178562937;178562936 | chr2:179427665;179427664;179427663 |
| N2B | 18667 | 56224;56225;56226 | chr2:178562938;178562937;178562936 | chr2:179427665;179427664;179427663 |
| Novex-1 | 18792 | 56599;56600;56601 | chr2:178562938;178562937;178562936 | chr2:179427665;179427664;179427663 |
| Novex-2 | 18859 | 56800;56801;56802 | chr2:178562938;178562937;178562936 | chr2:179427665;179427664;179427663 |
| 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/L | None | None | 0.981 | N | 0.4 | 0.289 | 0.598875534596 | gnomAD-4.0.0 | 1.36856E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.799E-06 | 0 | 0 |
| V/M | rs1332933880  |
-0.497 | 0.981 | N | 0.384 | 0.304 | 0.61117527565 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/M | rs1332933880 |
-0.497 | 0.981 | N | 0.384 | 0.304 | 0.61117527565 | 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 |
| V/M | rs1332933880 |
-0.497 | 0.981 | N | 0.384 | 0.304 | 0.61117527565 | gnomAD-4.0.0 | 1.42547E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.94958E-05 | 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 | 0.5229 | ambiguous | 0.5399 | ambiguous | -1.945 | Destabilizing | 0.996 | D | 0.44 | neutral | N | 0.488997693 | None | None | N |
| V/C | 0.8518 | likely_pathogenic | 0.865 | pathogenic | -1.427 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| V/D | 0.8784 | likely_pathogenic | 0.8903 | pathogenic | -2.374 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/E | 0.7092 | likely_pathogenic | 0.731 | pathogenic | -2.299 | Highly Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.531056602 | None | None | N |
| V/F | 0.4518 | ambiguous | 0.4701 | ambiguous | -1.311 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| V/G | 0.6226 | likely_pathogenic | 0.6122 | pathogenic | -2.346 | Highly Destabilizing | 0.999 | D | 0.78 | deleterious | N | 0.51692777 | None | None | N |
| V/H | 0.8262 | likely_pathogenic | 0.8392 | pathogenic | -1.951 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| V/I | 0.1032 | likely_benign | 0.11 | benign | -0.89 | Destabilizing | 0.985 | D | 0.467 | neutral | None | None | None | None | N |
| V/K | 0.7477 | likely_pathogenic | 0.7528 | pathogenic | -1.731 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| V/L | 0.3687 | ambiguous | 0.3854 | ambiguous | -0.89 | Destabilizing | 0.981 | D | 0.4 | neutral | N | 0.514164352 | None | None | N |
| V/M | 0.2902 | likely_benign | 0.3121 | benign | -0.761 | Destabilizing | 0.981 | D | 0.384 | neutral | N | 0.519975604 | None | None | N |
| V/N | 0.6481 | likely_pathogenic | 0.6616 | pathogenic | -1.683 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/P | 0.9904 | likely_pathogenic | 0.9897 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| V/Q | 0.6107 | likely_pathogenic | 0.6259 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| V/R | 0.6844 | likely_pathogenic | 0.6821 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/S | 0.5277 | ambiguous | 0.5334 | ambiguous | -2.206 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| V/T | 0.3559 | ambiguous | 0.3921 | ambiguous | -2.023 | Highly Destabilizing | 0.998 | D | 0.493 | neutral | None | None | None | None | N |
| V/W | 0.9591 | likely_pathogenic | 0.9621 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/Y | 0.8199 | likely_pathogenic | 0.8304 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.786 | 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.