Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16264 | 49015;49016;49017 | chr2:178614724;178614723;178614722 | chr2:179479451;179479450;179479449 |
| N2AB | 14623 | 44092;44093;44094 | chr2:178614724;178614723;178614722 | chr2:179479451;179479450;179479449 |
| N2A | 13696 | 41311;41312;41313 | chr2:178614724;178614723;178614722 | chr2:179479451;179479450;179479449 |
| N2B | 7199 | 21820;21821;21822 | chr2:178614724;178614723;178614722 | chr2:179479451;179479450;179479449 |
| Novex-1 | 7324 | 22195;22196;22197 | chr2:178614724;178614723;178614722 | chr2:179479451;179479450;179479449 |
| Novex-2 | 7391 | 22396;22397;22398 | chr2:178614724;178614723;178614722 | chr2:179479451;179479450;179479449 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/V | rs1243976427  |
-0.314 | 0.999 | N | 0.581 | 0.209 | 0.633221168995 | gnomAD-2.1.1 | 1.63E-05 | None | None | None | None | N | None | 0 | 1.17786E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/V | rs1243976427 |
-0.314 | 0.999 | N | 0.581 | 0.209 | 0.633221168995 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31285E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs1243976427 |
-0.314 | 0.999 | N | 0.581 | 0.209 | 0.633221168995 | gnomAD-4.0.0 | 6.43784E-06 | None | None | None | None | N | None | 0 | 8.5473E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.8859 | likely_pathogenic | 0.8839 | pathogenic | -1.314 | Destabilizing | 0.999 | D | 0.704 | prob.neutral | None | None | None | None | N |
| L/C | 0.8959 | likely_pathogenic | 0.8912 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| L/D | 0.9921 | likely_pathogenic | 0.9906 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| L/E | 0.9752 | likely_pathogenic | 0.9723 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| L/F | 0.7428 | likely_pathogenic | 0.74 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.492170341 | None | None | N |
| L/G | 0.9719 | likely_pathogenic | 0.9695 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| L/H | 0.9269 | likely_pathogenic | 0.9243 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.561319065 | None | None | N |
| L/I | 0.4632 | ambiguous | 0.4657 | ambiguous | -0.489 | Destabilizing | 0.999 | D | 0.518 | neutral | D | 0.524496193 | None | None | N |
| L/K | 0.9515 | likely_pathogenic | 0.9501 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| L/M | 0.3536 | ambiguous | 0.3567 | ambiguous | -0.548 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| L/N | 0.941 | likely_pathogenic | 0.934 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| L/P | 0.9932 | likely_pathogenic | 0.9921 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.79 | deleterious | N | 0.501744346 | None | None | N |
| L/Q | 0.8888 | likely_pathogenic | 0.887 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| L/R | 0.9302 | likely_pathogenic | 0.9261 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.527785034 | None | None | N |
| L/S | 0.9633 | likely_pathogenic | 0.9617 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| L/T | 0.8968 | likely_pathogenic | 0.8985 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| L/V | 0.4879 | ambiguous | 0.4852 | ambiguous | -0.731 | Destabilizing | 0.999 | D | 0.581 | neutral | N | 0.51646807 | None | None | N |
| L/W | 0.9164 | likely_pathogenic | 0.9108 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| L/Y | 0.873 | likely_pathogenic | 0.8655 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.753 | 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.