Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32527 | 97804;97805;97806 | chr2:178541498;178541497;178541496 | chr2:179406225;179406224;179406223 |
| N2AB | 30886 | 92881;92882;92883 | chr2:178541498;178541497;178541496 | chr2:179406225;179406224;179406223 |
| N2A | 29959 | 90100;90101;90102 | chr2:178541498;178541497;178541496 | chr2:179406225;179406224;179406223 |
| N2B | 23462 | 70609;70610;70611 | chr2:178541498;178541497;178541496 | chr2:179406225;179406224;179406223 |
| Novex-1 | 23587 | 70984;70985;70986 | chr2:178541498;178541497;178541496 | chr2:179406225;179406224;179406223 |
| Novex-2 | 23654 | 71185;71186;71187 | chr2:178541498;178541497;178541496 | chr2:179406225;179406224;179406223 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs776701934  |
-0.65 | 1.0 | N | 0.833 | 0.621 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 1.29467E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/D | rs776701934 |
-0.65 | 1.0 | N | 0.833 | 0.621 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 7.24E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs776701934 |
-0.65 | 1.0 | N | 0.833 | 0.621 | None | gnomAD-4.0.0 | 5.57862E-06 | None | None | None | None | I | None | 5.3416E-05 | 3.33533E-05 | None | 0 | 0 | None | 0 | 0 | 2.54327E-06 | 0 | 0 |
| G/S | rs762160311 |
-0.439 | 1.0 | N | 0.799 | 0.522 | 0.378674557249 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.15E-05 | None | 3.28E-05 | None | 0 | 3.13E-05 | 0 |
| G/S | rs762160311 |
-0.439 | 1.0 | N | 0.799 | 0.522 | 0.378674557249 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.0292E-04 | 0 | 0 |
| G/S | rs762160311 |
-0.439 | 1.0 | N | 0.799 | 0.522 | 0.378674557249 | gnomAD-4.0.0 | 4.71121E-05 | None | None | None | None | I | None | 1.33586E-05 | 0 | None | 0 | 2.23105E-05 | None | 0 | 0 | 6.18883E-05 | 1.09871E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.754 | likely_pathogenic | 0.7855 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.509249589 | None | None | I |
| G/C | 0.8753 | likely_pathogenic | 0.8996 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.544750537 | None | None | I |
| G/D | 0.9526 | likely_pathogenic | 0.9645 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.519084958 | None | None | I |
| G/E | 0.9673 | likely_pathogenic | 0.9761 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/F | 0.987 | likely_pathogenic | 0.9874 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/H | 0.9785 | likely_pathogenic | 0.9814 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/I | 0.9859 | likely_pathogenic | 0.9886 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/K | 0.9832 | likely_pathogenic | 0.9868 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/L | 0.9819 | likely_pathogenic | 0.9841 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/M | 0.9897 | likely_pathogenic | 0.9905 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/N | 0.9533 | likely_pathogenic | 0.9628 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/P | 0.9969 | likely_pathogenic | 0.9975 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/Q | 0.9718 | likely_pathogenic | 0.9773 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/R | 0.9369 | likely_pathogenic | 0.9463 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.498627299 | None | None | I |
| G/S | 0.6412 | likely_pathogenic | 0.6905 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.515717596 | None | None | I |
| G/T | 0.9457 | likely_pathogenic | 0.9548 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/V | 0.9703 | likely_pathogenic | 0.9757 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.517745512 | None | None | I |
| G/W | 0.9671 | likely_pathogenic | 0.9682 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/Y | 0.9769 | likely_pathogenic | 0.9786 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
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.