Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14742 | 44449;44450;44451 | chr2:178630298;178630297;178630296 | chr2:179495025;179495024;179495023 |
| N2AB | 13101 | 39526;39527;39528 | chr2:178630298;178630297;178630296 | chr2:179495025;179495024;179495023 |
| N2A | 12174 | 36745;36746;36747 | chr2:178630298;178630297;178630296 | chr2:179495025;179495024;179495023 |
| N2B | 5677 | 17254;17255;17256 | chr2:178630298;178630297;178630296 | chr2:179495025;179495024;179495023 |
| Novex-1 | 5802 | 17629;17630;17631 | chr2:178630298;178630297;178630296 | chr2:179495025;179495024;179495023 |
| Novex-2 | 5869 | 17830;17831;17832 | chr2:178630298;178630297;178630296 | chr2:179495025;179495024;179495023 |
| 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 | rs1430202679  |
None | 1.0 | D | 0.887 | 0.617 | 0.54665026281 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs1430202679 |
None | 1.0 | D | 0.887 | 0.617 | 0.54665026281 | gnomAD-4.0.0 | 6.5754E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47054E-05 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.861 | 0.616 | 0.740342617967 | gnomAD-4.0.0 | 6.8448E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99719E-07 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.797 | 0.617 | 0.482574385019 | gnomAD-4.0.0 | 1.36896E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79944E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4185 | ambiguous | 0.4791 | ambiguous | -0.663 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | D | 0.612832793 | None | None | N |
| G/C | 0.8024 | likely_pathogenic | 0.871 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.680140721 | None | None | N |
| G/D | 0.8934 | likely_pathogenic | 0.9494 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.71659797 | None | None | N |
| G/E | 0.9137 | likely_pathogenic | 0.959 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| G/F | 0.9806 | likely_pathogenic | 0.9866 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/H | 0.9768 | likely_pathogenic | 0.9861 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/I | 0.9588 | likely_pathogenic | 0.9735 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/K | 0.9719 | likely_pathogenic | 0.9859 | pathogenic | -1.349 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/L | 0.9677 | likely_pathogenic | 0.9781 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/M | 0.9717 | likely_pathogenic | 0.9809 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/N | 0.9476 | likely_pathogenic | 0.9714 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/P | 0.9958 | likely_pathogenic | 0.9973 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/Q | 0.9388 | likely_pathogenic | 0.9644 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/R | 0.9102 | likely_pathogenic | 0.9522 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.717432515 | None | None | N |
| G/S | 0.4263 | ambiguous | 0.5404 | ambiguous | -1.19 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.678407058 | None | None | N |
| G/T | 0.8357 | likely_pathogenic | 0.8904 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/V | 0.8943 | likely_pathogenic | 0.93 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.717432515 | None | None | N |
| G/W | 0.9608 | likely_pathogenic | 0.9753 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Y | 0.9748 | likely_pathogenic | 0.985 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.824 | 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.