Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27724 | 83395;83396;83397 | chr2:178562962;178562961;178562960 | chr2:179427689;179427688;179427687 |
| N2AB | 26083 | 78472;78473;78474 | chr2:178562962;178562961;178562960 | chr2:179427689;179427688;179427687 |
| N2A | 25156 | 75691;75692;75693 | chr2:178562962;178562961;178562960 | chr2:179427689;179427688;179427687 |
| N2B | 18659 | 56200;56201;56202 | chr2:178562962;178562961;178562960 | chr2:179427689;179427688;179427687 |
| Novex-1 | 18784 | 56575;56576;56577 | chr2:178562962;178562961;178562960 | chr2:179427689;179427688;179427687 |
| Novex-2 | 18851 | 56776;56777;56778 | chr2:178562962;178562961;178562960 | chr2:179427689;179427688;179427687 |
| 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/G | rs201896662  |
-1.553 | 0.994 | N | 0.783 | 0.434 | None | gnomAD-2.1.1 | 5.07516E-04 | None | None | None | None | N | None | 1.23998E-04 | 2.83E-05 | None | 1.08422E-02 | 0 | None | 0 | None | 0 | 1.72157E-04 | 5.61798E-04 |
| V/G | rs201896662 |
-1.553 | 0.994 | N | 0.783 | 0.434 | None | gnomAD-3.1.2 | 5.25928E-04 | None | None | None | None | N | None | 2.41255E-04 | 6.55E-05 | 0 | 1.70029E-02 | 0 | None | 0 | 3.16456E-03 | 1.3233E-04 | 0 | 0 |
| V/G | rs201896662 |
-1.553 | 0.994 | N | 0.783 | 0.434 | None | gnomAD-4.0.0 | 3.34047E-04 | None | None | None | None | N | None | 2.1359E-04 | 3.33489E-05 | None | 1.22306E-02 | 0 | None | 0 | 1.15094E-03 | 8.05268E-05 | 0 | 9.12818E-04 |
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 | 0.1784 | likely_benign | 0.194 | benign | -0.938 | Destabilizing | 0.958 | D | 0.613 | neutral | D | 0.53561706 | None | None | N |
| V/C | 0.6888 | likely_pathogenic | 0.7295 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| V/D | 0.3549 | ambiguous | 0.409 | ambiguous | -0.421 | Destabilizing | 0.998 | D | 0.805 | deleterious | None | None | None | None | N |
| V/E | 0.284 | likely_benign | 0.3174 | benign | -0.452 | Destabilizing | 0.994 | D | 0.787 | deleterious | N | 0.51218284 | None | None | N |
| V/F | 0.2447 | likely_benign | 0.2831 | benign | -0.731 | Destabilizing | 0.991 | D | 0.766 | deleterious | None | None | None | None | N |
| V/G | 0.2315 | likely_benign | 0.2555 | benign | -1.198 | Destabilizing | 0.994 | D | 0.783 | deleterious | N | 0.513743065 | None | None | N |
| V/H | 0.5259 | ambiguous | 0.5892 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| V/I | 0.0854 | likely_benign | 0.0884 | benign | -0.357 | Destabilizing | 0.862 | D | 0.539 | neutral | None | None | None | None | N |
| V/K | 0.3073 | likely_benign | 0.3596 | ambiguous | -0.741 | Destabilizing | 0.995 | D | 0.789 | deleterious | None | None | None | None | N |
| V/L | 0.3077 | likely_benign | 0.3306 | benign | -0.357 | Destabilizing | 0.067 | N | 0.368 | neutral | N | 0.500832482 | None | None | N |
| V/M | 0.1682 | likely_benign | 0.1834 | benign | -0.355 | Destabilizing | 0.988 | D | 0.76 | deleterious | D | 0.537177285 | None | None | N |
| V/N | 0.183 | likely_benign | 0.1918 | benign | -0.547 | Destabilizing | 0.998 | D | 0.801 | deleterious | None | None | None | None | N |
| V/P | 0.7905 | likely_pathogenic | 0.8385 | pathogenic | -0.514 | Destabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | N |
| V/Q | 0.3086 | likely_benign | 0.342 | ambiguous | -0.7 | Destabilizing | 0.998 | D | 0.797 | deleterious | None | None | None | None | N |
| V/R | 0.3311 | likely_benign | 0.3939 | ambiguous | -0.265 | Destabilizing | 0.995 | D | 0.801 | deleterious | None | None | None | None | N |
| V/S | 0.1716 | likely_benign | 0.1829 | benign | -1.049 | Destabilizing | 0.995 | D | 0.783 | deleterious | None | None | None | None | N |
| V/T | 0.1321 | likely_benign | 0.1423 | benign | -0.966 | Destabilizing | 0.968 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/W | 0.8628 | likely_pathogenic | 0.9103 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| V/Y | 0.5357 | ambiguous | 0.5951 | pathogenic | -0.573 | Destabilizing | 0.995 | D | 0.775 | 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.