Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16995 | 51208;51209;51210 | chr2:178611146;178611145;178611144 | chr2:179475873;179475872;179475871 |
| N2AB | 15354 | 46285;46286;46287 | chr2:178611146;178611145;178611144 | chr2:179475873;179475872;179475871 |
| N2A | 14427 | 43504;43505;43506 | chr2:178611146;178611145;178611144 | chr2:179475873;179475872;179475871 |
| N2B | 7930 | 24013;24014;24015 | chr2:178611146;178611145;178611144 | chr2:179475873;179475872;179475871 |
| Novex-1 | 8055 | 24388;24389;24390 | chr2:178611146;178611145;178611144 | chr2:179475873;179475872;179475871 |
| Novex-2 | 8122 | 24589;24590;24591 | chr2:178611146;178611145;178611144 | chr2:179475873;179475872;179475871 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs187763563  |
-1.575 | None | N | 0.412 | 0.209 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94932E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs187763563 |
-1.575 | None | N | 0.412 | 0.209 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/F | rs187763563 |
-1.575 | None | N | 0.412 | 0.209 | None | gnomAD-4.0.0 | 6.5754E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.95389E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs187763563 |
-0.745 | None | N | 0.127 | 0.067 | 0.177238962908 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| V/I | rs187763563 |
-0.745 | None | N | 0.127 | 0.067 | 0.177238962908 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| V/I | rs187763563 |
-0.745 | None | N | 0.127 | 0.067 | 0.177238962908 | gnomAD-4.0.0 | 2.10827E-05 | None | None | None | None | N | None | 1.3359E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62883E-05 | 0 | 3.20523E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3575 | ambiguous | 0.3633 | ambiguous | -2.0 | Highly Destabilizing | 0.024 | N | 0.399 | neutral | N | 0.511556047 | None | None | N |
| V/C | 0.7275 | likely_pathogenic | 0.7292 | pathogenic | -1.12 | Destabilizing | 0.628 | D | 0.639 | neutral | None | None | None | None | N |
| V/D | 0.7206 | likely_pathogenic | 0.721 | pathogenic | -2.238 | Highly Destabilizing | 0.56 | D | 0.687 | prob.neutral | D | 0.590934058 | None | None | N |
| V/E | 0.6027 | likely_pathogenic | 0.5927 | pathogenic | -2.136 | Highly Destabilizing | 0.136 | N | 0.682 | prob.neutral | None | None | None | None | N |
| V/F | 0.1944 | likely_benign | 0.2125 | benign | -1.423 | Destabilizing | None | N | 0.412 | neutral | N | 0.497785905 | None | None | N |
| V/G | 0.4117 | ambiguous | 0.4071 | ambiguous | -2.406 | Highly Destabilizing | 0.106 | N | 0.651 | neutral | D | 0.590030021 | None | None | N |
| V/H | 0.8241 | likely_pathogenic | 0.8394 | pathogenic | -2.011 | Highly Destabilizing | 0.864 | D | 0.656 | neutral | None | None | None | None | N |
| V/I | 0.0764 | likely_benign | 0.0823 | benign | -0.915 | Destabilizing | None | N | 0.127 | neutral | N | 0.449303479 | None | None | N |
| V/K | 0.7422 | likely_pathogenic | 0.7512 | pathogenic | -1.704 | Destabilizing | 0.136 | N | 0.646 | neutral | None | None | None | None | N |
| V/L | 0.1244 | likely_benign | 0.1352 | benign | -0.915 | Destabilizing | None | N | 0.12 | neutral | N | 0.360539779 | None | None | N |
| V/M | 0.1327 | likely_benign | 0.1475 | benign | -0.619 | Destabilizing | 0.007 | N | 0.363 | neutral | None | None | None | None | N |
| V/N | 0.6024 | likely_pathogenic | 0.6316 | pathogenic | -1.598 | Destabilizing | 0.628 | D | 0.684 | prob.neutral | None | None | None | None | N |
| V/P | 0.889 | likely_pathogenic | 0.8738 | pathogenic | -1.249 | Destabilizing | 0.628 | D | 0.663 | neutral | None | None | None | None | N |
| V/Q | 0.6447 | likely_pathogenic | 0.657 | pathogenic | -1.652 | Destabilizing | 0.356 | N | 0.666 | neutral | None | None | None | None | N |
| V/R | 0.7146 | likely_pathogenic | 0.7295 | pathogenic | -1.275 | Destabilizing | 0.356 | N | 0.68 | prob.neutral | None | None | None | None | N |
| V/S | 0.5383 | ambiguous | 0.5617 | ambiguous | -2.103 | Highly Destabilizing | 0.136 | N | 0.601 | neutral | None | None | None | None | N |
| V/T | 0.4161 | ambiguous | 0.4374 | ambiguous | -1.886 | Destabilizing | 0.072 | N | 0.466 | neutral | None | None | None | None | N |
| V/W | 0.8128 | likely_pathogenic | 0.8338 | pathogenic | -1.761 | Destabilizing | 0.864 | D | 0.655 | neutral | None | None | None | None | N |
| V/Y | 0.6141 | likely_pathogenic | 0.6442 | pathogenic | -1.457 | Destabilizing | 0.038 | N | 0.637 | 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.