Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15760 | 47503;47504;47505 | chr2:178618073;178618072;178618071 | chr2:179482800;179482799;179482798 |
| N2AB | 14119 | 42580;42581;42582 | chr2:178618073;178618072;178618071 | chr2:179482800;179482799;179482798 |
| N2A | 13192 | 39799;39800;39801 | chr2:178618073;178618072;178618071 | chr2:179482800;179482799;179482798 |
| N2B | 6695 | 20308;20309;20310 | chr2:178618073;178618072;178618071 | chr2:179482800;179482799;179482798 |
| Novex-1 | 6820 | 20683;20684;20685 | chr2:178618073;178618072;178618071 | chr2:179482800;179482799;179482798 |
| Novex-2 | 6887 | 20884;20885;20886 | chr2:178618073;178618072;178618071 | chr2:179482800;179482799;179482798 |
| 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/A | None | None | 0.961 | D | 0.539 | 0.33 | 0.279776271856 | gnomAD-4.0.0 | 1.36989E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00022E-07 | 1.16104E-05 | 0 |
| G/D | rs774620483  |
-1.397 | 0.031 | N | 0.304 | 0.21 | 0.19670166235 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 8.76E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs774620483 |
-1.397 | 0.031 | N | 0.304 | 0.21 | 0.19670166235 | gnomAD-4.0.0 | 1.36989E-06 | None | None | None | None | N | None | 0 | 4.48853E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 0.989 | D | 0.647 | 0.415 | 0.52730433808 | gnomAD-4.0.0 | 6.84965E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00028E-07 | 0 | 0 |
| G/S | rs372404266 |
-1.107 | 0.961 | N | 0.569 | 0.29 | None | gnomAD-2.1.1 | 3.24E-05 | None | None | None | None | N | None | 4.15E-05 | 2.85E-05 | None | 0 | 0 | None | 0 | None | 0 | 5.53E-05 | 0 |
| G/S | rs372404266 |
-1.107 | 0.961 | N | 0.569 | 0.29 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.36E-05 | 0 | 0 |
| G/S | rs372404266 |
-1.107 | 0.961 | N | 0.569 | 0.29 | None | gnomAD-4.0.0 | 4.40495E-05 | None | None | None | None | N | None | 2.67437E-05 | 1.67286E-05 | None | 0 | 0 | None | 0 | 0 | 5.34363E-05 | 0 | 8.02182E-05 |
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 | 0.195 | likely_benign | 0.232 | benign | -0.933 | Destabilizing | 0.961 | D | 0.539 | neutral | D | 0.557226732 | None | None | N |
| G/C | 0.4618 | ambiguous | 0.5078 | ambiguous | -1.191 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.678674087 | None | None | N |
| G/D | 0.3978 | ambiguous | 0.4628 | ambiguous | -2.279 | Highly Destabilizing | 0.031 | N | 0.304 | neutral | N | 0.465619085 | None | None | N |
| G/E | 0.4253 | ambiguous | 0.5145 | ambiguous | -2.23 | Highly Destabilizing | 0.304 | N | 0.415 | neutral | None | None | None | None | N |
| G/F | 0.789 | likely_pathogenic | 0.8405 | pathogenic | -0.897 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | None | None | None | None | N |
| G/H | 0.7427 | likely_pathogenic | 0.7804 | pathogenic | -1.695 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| G/I | 0.7198 | likely_pathogenic | 0.7873 | pathogenic | -0.254 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/K | 0.7676 | likely_pathogenic | 0.8391 | pathogenic | -1.424 | Destabilizing | 0.991 | D | 0.578 | neutral | None | None | None | None | N |
| G/L | 0.6105 | likely_pathogenic | 0.6732 | pathogenic | -0.254 | Destabilizing | 0.996 | D | 0.675 | neutral | None | None | None | None | N |
| G/M | 0.713 | likely_pathogenic | 0.7568 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/N | 0.5406 | ambiguous | 0.5755 | pathogenic | -1.371 | Destabilizing | 0.97 | D | 0.63 | neutral | None | None | None | None | N |
| G/P | 0.9673 | likely_pathogenic | 0.9769 | pathogenic | -0.44 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| G/Q | 0.5845 | likely_pathogenic | 0.6446 | pathogenic | -1.429 | Destabilizing | 0.991 | D | 0.633 | neutral | None | None | None | None | N |
| G/R | 0.7089 | likely_pathogenic | 0.7925 | pathogenic | -1.26 | Destabilizing | 0.989 | D | 0.647 | neutral | D | 0.600070223 | None | None | N |
| G/S | 0.1538 | likely_benign | 0.16 | benign | -1.595 | Destabilizing | 0.961 | D | 0.569 | neutral | N | 0.469682817 | None | None | N |
| G/T | 0.4114 | ambiguous | 0.471 | ambiguous | -1.476 | Destabilizing | 0.996 | D | 0.583 | neutral | None | None | None | None | N |
| G/V | 0.5843 | likely_pathogenic | 0.6805 | pathogenic | -0.44 | Destabilizing | 0.994 | D | 0.667 | neutral | D | 0.601074708 | None | None | N |
| G/W | 0.7361 | likely_pathogenic | 0.7717 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| G/Y | 0.6595 | likely_pathogenic | 0.7291 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.707 | prob.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.