Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33340 | 100243;100244;100245 | chr2:178537091;178537090;178537089 | chr2:179401818;179401817;179401816 |
| N2AB | 31699 | 95320;95321;95322 | chr2:178537091;178537090;178537089 | chr2:179401818;179401817;179401816 |
| N2A | 30772 | 92539;92540;92541 | chr2:178537091;178537090;178537089 | chr2:179401818;179401817;179401816 |
| N2B | 24275 | 73048;73049;73050 | chr2:178537091;178537090;178537089 | chr2:179401818;179401817;179401816 |
| Novex-1 | 24400 | 73423;73424;73425 | chr2:178537091;178537090;178537089 | chr2:179401818;179401817;179401816 |
| Novex-2 | 24467 | 73624;73625;73626 | chr2:178537091;178537090;178537089 | chr2:179401818;179401817;179401816 |
| 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/K | rs558954116  |
-0.385 | 0.001 | N | 0.108 | 0.164 | 0.101711395817 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 3.57E-05 | 1.66389E-04 |
| Q/K | rs558954116 |
-0.385 | 0.001 | N | 0.108 | 0.164 | 0.101711395817 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 1.3101E-04 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| Q/K | rs558954116 |
-0.385 | 0.001 | N | 0.108 | 0.164 | 0.101711395817 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| Q/K | rs558954116 |
-0.385 | 0.001 | N | 0.108 | 0.164 | 0.101711395817 | gnomAD-4.0.0 | 1.23976E-05 | None | None | None | None | N | None | 0 | 5.00668E-05 | None | 0 | 0 | None | 0 | 4.94886E-04 | 9.32561E-06 | 1.09926E-05 | 3.20246E-05 |
| Q/P | rs1691940311 |
None | 0.523 | N | 0.336 | 0.368 | 0.273070737957 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/P | rs1691940311 |
None | 0.523 | N | 0.336 | 0.368 | 0.273070737957 | gnomAD-4.0.0 | 6.57229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47011E-05 | 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 | 0.375 | ambiguous | 0.3957 | ambiguous | -0.55 | Destabilizing | 0.129 | N | 0.351 | neutral | None | None | None | None | N |
| Q/C | 0.6593 | likely_pathogenic | 0.7026 | pathogenic | 0.001 | Stabilizing | 0.983 | D | 0.332 | neutral | None | None | None | None | N |
| Q/D | 0.5479 | ambiguous | 0.5637 | ambiguous | -0.219 | Destabilizing | 0.129 | N | 0.269 | neutral | None | None | None | None | N |
| Q/E | 0.1106 | likely_benign | 0.1087 | benign | -0.15 | Destabilizing | 0.001 | N | 0.101 | neutral | N | 0.418992172 | None | None | N |
| Q/F | 0.7355 | likely_pathogenic | 0.7673 | pathogenic | -0.27 | Destabilizing | 0.836 | D | 0.353 | neutral | None | None | None | None | N |
| Q/G | 0.5049 | ambiguous | 0.5364 | ambiguous | -0.87 | Destabilizing | 0.228 | N | 0.29 | neutral | None | None | None | None | N |
| Q/H | 0.2182 | likely_benign | 0.2281 | benign | -0.579 | Destabilizing | 0.001 | N | 0.095 | neutral | N | 0.445389339 | None | None | N |
| Q/I | 0.4214 | ambiguous | 0.4326 | ambiguous | 0.252 | Stabilizing | 0.836 | D | 0.365 | neutral | None | None | None | None | N |
| Q/K | 0.1346 | likely_benign | 0.1304 | benign | -0.359 | Destabilizing | 0.001 | N | 0.108 | neutral | N | 0.405233441 | None | None | N |
| Q/L | 0.2082 | likely_benign | 0.2195 | benign | 0.252 | Stabilizing | 0.351 | N | 0.283 | neutral | N | 0.455643618 | None | None | N |
| Q/M | 0.4466 | ambiguous | 0.4465 | ambiguous | 0.472 | Stabilizing | 0.94 | D | 0.345 | neutral | None | None | None | None | N |
| Q/N | 0.3121 | likely_benign | 0.3514 | ambiguous | -0.791 | Destabilizing | 0.01 | N | 0.099 | neutral | None | None | None | None | N |
| Q/P | 0.8386 | likely_pathogenic | 0.8686 | pathogenic | 0.016 | Stabilizing | 0.523 | D | 0.336 | neutral | N | 0.499877185 | None | None | N |
| Q/R | 0.1697 | likely_benign | 0.1721 | benign | -0.222 | Destabilizing | 0.101 | N | 0.259 | neutral | N | 0.44846693 | None | None | N |
| Q/S | 0.3187 | likely_benign | 0.3651 | ambiguous | -0.866 | Destabilizing | 0.129 | N | 0.266 | neutral | None | None | None | None | N |
| Q/T | 0.2706 | likely_benign | 0.2716 | benign | -0.615 | Destabilizing | 0.418 | N | 0.299 | neutral | None | None | None | None | N |
| Q/V | 0.3014 | likely_benign | 0.3029 | benign | 0.016 | Stabilizing | 0.418 | N | 0.276 | neutral | None | None | None | None | N |
| Q/W | 0.7424 | likely_pathogenic | 0.7694 | pathogenic | -0.177 | Destabilizing | 0.983 | D | 0.337 | neutral | None | None | None | None | N |
| Q/Y | 0.5408 | ambiguous | 0.5742 | pathogenic | 0.02 | Stabilizing | 0.418 | N | 0.387 | 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.