Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21093 | 63502;63503;63504 | chr2:178588130;178588129;178588128 | chr2:179452857;179452856;179452855 |
| N2AB | 19452 | 58579;58580;58581 | chr2:178588130;178588129;178588128 | chr2:179452857;179452856;179452855 |
| N2A | 18525 | 55798;55799;55800 | chr2:178588130;178588129;178588128 | chr2:179452857;179452856;179452855 |
| N2B | 12028 | 36307;36308;36309 | chr2:178588130;178588129;178588128 | chr2:179452857;179452856;179452855 |
| Novex-1 | 12153 | 36682;36683;36684 | chr2:178588130;178588129;178588128 | chr2:179452857;179452856;179452855 |
| Novex-2 | 12220 | 36883;36884;36885 | chr2:178588130;178588129;178588128 | chr2:179452857;179452856;179452855 |
| 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 | rs1400431485  |
-0.656 | 1.0 | N | 0.663 | 0.485 | 0.40218521252 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1400431485 |
-0.656 | 1.0 | N | 0.663 | 0.485 | 0.40218521252 | gnomAD-4.0.0 | 1.59395E-06 | None | None | None | None | I | None | 5.67022E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs753537435 |
-0.599 | 1.0 | N | 0.681 | 0.427 | 0.339074221408 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs753537435 |
-0.599 | 1.0 | N | 0.681 | 0.427 | 0.339074221408 | gnomAD-4.0.0 | 1.594E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43468E-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 | 0.8465 | likely_pathogenic | 0.7593 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.604 | neutral | N | 0.488304043 | None | None | I |
| G/C | 0.9088 | likely_pathogenic | 0.8349 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.527932821 | None | None | I |
| G/D | 0.9609 | likely_pathogenic | 0.9182 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.499824932 | None | None | I |
| G/E | 0.9685 | likely_pathogenic | 0.9341 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/F | 0.9832 | likely_pathogenic | 0.9716 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| G/H | 0.964 | likely_pathogenic | 0.9248 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/I | 0.9785 | likely_pathogenic | 0.9637 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/K | 0.9447 | likely_pathogenic | 0.89 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/L | 0.9691 | likely_pathogenic | 0.9501 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/M | 0.9761 | likely_pathogenic | 0.9583 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/N | 0.9229 | likely_pathogenic | 0.8622 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | I |
| G/P | 0.9971 | likely_pathogenic | 0.9958 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/Q | 0.9451 | likely_pathogenic | 0.8889 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/R | 0.9039 | likely_pathogenic | 0.8234 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.497204813 | None | None | I |
| G/S | 0.7507 | likely_pathogenic | 0.6174 | pathogenic | -0.55 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.484024855 | None | None | I |
| G/T | 0.9326 | likely_pathogenic | 0.8876 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/V | 0.9632 | likely_pathogenic | 0.9389 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.526665373 | None | None | I |
| G/W | 0.9761 | likely_pathogenic | 0.9578 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/Y | 0.9738 | likely_pathogenic | 0.948 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.755 | 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.