Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25929 | 78010;78011;78012 | chr2:178568347;178568346;178568345 | chr2:179433074;179433073;179433072 |
| N2AB | 24288 | 73087;73088;73089 | chr2:178568347;178568346;178568345 | chr2:179433074;179433073;179433072 |
| N2A | 23361 | 70306;70307;70308 | chr2:178568347;178568346;178568345 | chr2:179433074;179433073;179433072 |
| N2B | 16864 | 50815;50816;50817 | chr2:178568347;178568346;178568345 | chr2:179433074;179433073;179433072 |
| Novex-1 | 16989 | 51190;51191;51192 | chr2:178568347;178568346;178568345 | chr2:179433074;179433073;179433072 |
| Novex-2 | 17056 | 51391;51392;51393 | chr2:178568347;178568346;178568345 | chr2:179433074;179433073;179433072 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs758386212  |
-2.121 | None | N | 0.3 | 0.152 | 0.0954503805726 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Q/E | rs758386212 |
-2.121 | None | N | 0.3 | 0.152 | 0.0954503805726 | gnomAD-4.0.0 | 2.05317E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31889E-05 | 1.6575E-05 |
| Q/H | rs1435821903 |
-1.746 | 0.001 | N | 0.334 | 0.168 | 0.0954503805726 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| Q/H | rs1435821903 |
-1.746 | 0.001 | N | 0.334 | 0.168 | 0.0954503805726 | gnomAD-4.0.0 | 1.5922E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85956E-06 | 0 | 0 |
| Q/R | rs750283007 |
-0.903 | 0.351 | N | 0.613 | 0.185 | 0.126345400529 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.03189E-04 | None | 0 | None | 0 | 0 | 0 |
| Q/R | rs750283007 |
-0.903 | 0.351 | N | 0.613 | 0.185 | 0.126345400529 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs750283007 |
-0.903 | 0.351 | N | 0.613 | 0.185 | 0.126345400529 | gnomAD-4.0.0 | 2.56345E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.86216E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4607 | ambiguous | 0.4992 | ambiguous | -1.745 | Destabilizing | 0.228 | N | 0.547 | neutral | None | None | None | None | N |
| Q/C | 0.6308 | likely_pathogenic | 0.6657 | pathogenic | -0.941 | Destabilizing | 0.983 | D | 0.724 | prob.delet. | None | None | None | None | N |
| Q/D | 0.7902 | likely_pathogenic | 0.8518 | pathogenic | -2.445 | Highly Destabilizing | 0.129 | N | 0.526 | neutral | None | None | None | None | N |
| Q/E | 0.1059 | likely_benign | 0.134 | benign | -2.11 | Highly Destabilizing | None | N | 0.3 | neutral | N | 0.341510036 | None | None | N |
| Q/F | 0.809 | likely_pathogenic | 0.8189 | pathogenic | -1.099 | Destabilizing | 0.716 | D | 0.699 | prob.neutral | None | None | None | None | N |
| Q/G | 0.5883 | likely_pathogenic | 0.6433 | pathogenic | -2.154 | Highly Destabilizing | 0.418 | N | 0.633 | neutral | None | None | None | None | N |
| Q/H | 0.2661 | likely_benign | 0.2923 | benign | -1.44 | Destabilizing | 0.001 | N | 0.334 | neutral | N | 0.477422399 | None | None | N |
| Q/I | 0.6844 | likely_pathogenic | 0.7429 | pathogenic | -0.577 | Destabilizing | 0.836 | D | 0.702 | prob.neutral | None | None | None | None | N |
| Q/K | 0.2147 | likely_benign | 0.2697 | benign | -0.863 | Destabilizing | 0.101 | N | 0.561 | neutral | N | 0.503530779 | None | None | N |
| Q/L | 0.2117 | likely_benign | 0.2242 | benign | -0.577 | Destabilizing | 0.351 | N | 0.635 | neutral | N | 0.515692 | None | None | N |
| Q/M | 0.437 | ambiguous | 0.4464 | ambiguous | -0.633 | Destabilizing | 0.94 | D | 0.656 | neutral | None | None | None | None | N |
| Q/N | 0.5689 | likely_pathogenic | 0.6213 | pathogenic | -1.667 | Destabilizing | 0.264 | N | 0.585 | neutral | None | None | None | None | N |
| Q/P | 0.9788 | likely_pathogenic | 0.9892 | pathogenic | -0.95 | Destabilizing | 0.523 | D | 0.637 | neutral | N | 0.496287122 | None | None | N |
| Q/R | 0.2235 | likely_benign | 0.2758 | benign | -1.042 | Destabilizing | 0.351 | N | 0.613 | neutral | N | 0.508379238 | None | None | N |
| Q/S | 0.4709 | ambiguous | 0.4902 | ambiguous | -1.977 | Destabilizing | 0.228 | N | 0.549 | neutral | None | None | None | None | N |
| Q/T | 0.5129 | ambiguous | 0.581 | pathogenic | -1.495 | Destabilizing | 0.418 | N | 0.609 | neutral | None | None | None | None | N |
| Q/V | 0.4888 | ambiguous | 0.5476 | ambiguous | -0.95 | Destabilizing | 0.593 | D | 0.619 | neutral | None | None | None | None | N |
| Q/W | 0.7088 | likely_pathogenic | 0.728 | pathogenic | -1.203 | Destabilizing | 0.983 | D | 0.705 | prob.neutral | None | None | None | None | N |
| Q/Y | 0.5447 | ambiguous | 0.5819 | pathogenic | -0.853 | Destabilizing | 0.264 | N | 0.643 | neutral | 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.