Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30589 | 91990;91991;91992 | chr2:178550073;178550072;178550071 | chr2:179414800;179414799;179414798 |
| N2AB | 28948 | 87067;87068;87069 | chr2:178550073;178550072;178550071 | chr2:179414800;179414799;179414798 |
| N2A | 28021 | 84286;84287;84288 | chr2:178550073;178550072;178550071 | chr2:179414800;179414799;179414798 |
| N2B | 21524 | 64795;64796;64797 | chr2:178550073;178550072;178550071 | chr2:179414800;179414799;179414798 |
| Novex-1 | 21649 | 65170;65171;65172 | chr2:178550073;178550072;178550071 | chr2:179414800;179414799;179414798 |
| Novex-2 | 21716 | 65371;65372;65373 | chr2:178550073;178550072;178550071 | chr2:179414800;179414799;179414798 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs148617456  |
-1.22 | 1.0 | N | 0.733 | 0.416 | None | gnomAD-2.1.1 | 3.38986E-03 | None | None | None | None | N | None | 2.0668E-04 | 7.63488E-04 | None | 1.0626E-03 | 1.02501E-04 | None | 2.17036E-02 | None | 4E-05 | 1.70981E-03 | 2.9453E-03 |
| A/T | rs148617456 |
-1.22 | 1.0 | N | 0.733 | 0.416 | None | gnomAD-3.1.2 | 1.77459E-03 | None | None | None | None | N | None | 2.41336E-04 | 1.83438E-03 | 0 | 8.64553E-04 | 0 | None | 0 | 0 | 1.64653E-03 | 2.34148E-02 | 1.91205E-03 |
| A/T | rs148617456 |
-1.22 | 1.0 | N | 0.733 | 0.416 | None | 1000 genomes | 5.99042E-03 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 2E-03 | None | None | None | 2.76E-02 | None |
| A/T | rs148617456 |
-1.22 | 1.0 | N | 0.733 | 0.416 | None | gnomAD-4.0.0 | 2.17191E-03 | None | None | None | None | N | None | 3.19915E-04 | 9.83268E-04 | None | 8.44709E-04 | 1.56027E-04 | None | 6.24785E-05 | 4.12541E-03 | 1.05784E-03 | 2.11916E-02 | 2.92922E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5038 | ambiguous | 0.4668 | ambiguous | -1.508 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| A/D | 0.9758 | likely_pathogenic | 0.9739 | pathogenic | -2.058 | Highly Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.550003317 | None | None | N |
| A/E | 0.9734 | likely_pathogenic | 0.969 | pathogenic | -2.07 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/F | 0.9194 | likely_pathogenic | 0.9113 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/G | 0.3105 | likely_benign | 0.2964 | benign | -1.342 | Destabilizing | 1.0 | D | 0.585 | neutral | N | 0.520289267 | None | None | N |
| A/H | 0.9807 | likely_pathogenic | 0.9773 | pathogenic | -1.396 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/I | 0.4663 | ambiguous | 0.4474 | ambiguous | -0.515 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/K | 0.9916 | likely_pathogenic | 0.9899 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| A/L | 0.5546 | ambiguous | 0.5077 | ambiguous | -0.515 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| A/M | 0.5955 | likely_pathogenic | 0.5674 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| A/N | 0.8938 | likely_pathogenic | 0.8798 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| A/P | 0.8098 | likely_pathogenic | 0.8049 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.502438502 | None | None | N |
| A/Q | 0.9635 | likely_pathogenic | 0.9565 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/R | 0.9821 | likely_pathogenic | 0.9795 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/S | 0.155 | likely_benign | 0.1544 | benign | -1.581 | Destabilizing | 1.0 | D | 0.615 | neutral | D | 0.529176664 | None | None | N |
| A/T | 0.1368 | likely_benign | 0.1401 | benign | -1.503 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.515708721 | None | None | N |
| A/V | 0.1975 | likely_benign | 0.1914 | benign | -0.668 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.459116359 | None | None | N |
| A/W | 0.9937 | likely_pathogenic | 0.9923 | pathogenic | -1.659 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| A/Y | 0.9742 | likely_pathogenic | 0.9698 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.769 | 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.