Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6610 | 20053;20054;20055 | chr2:178727750;178727749;178727748 | chr2:179592477;179592476;179592475 |
| N2AB | 6293 | 19102;19103;19104 | chr2:178727750;178727749;178727748 | chr2:179592477;179592476;179592475 |
| N2A | 5366 | 16321;16322;16323 | chr2:178727750;178727749;178727748 | chr2:179592477;179592476;179592475 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 0.002 | N | 0.142 | 0.108 | 0.134241683229 | gnomAD-4.0.0 | 1.59229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77377E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | None | None | 0.918 | N | 0.536 | 0.327 | 0.185906805712 | gnomAD-4.0.0 | 6.84404E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99716E-07 | 0 | 0 |
| D/H | None | None | 0.131 | N | 0.342 | 0.454 | 0.20549828249 | gnomAD-4.0.0 | 3.18461E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86681E-05 | 0 |
| D/V | rs755182614  |
0.157 | 0.986 | N | 0.617 | 0.521 | 0.567605623258 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/V | rs755182614 |
0.157 | 0.986 | N | 0.617 | 0.521 | 0.567605623258 | gnomAD-4.0.0 | 6.84404E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15977E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2264 | likely_benign | 0.2639 | benign | -0.633 | Destabilizing | 0.939 | D | 0.569 | neutral | N | 0.473550242 | None | None | N |
| D/C | 0.7246 | likely_pathogenic | 0.783 | pathogenic | -0.266 | Destabilizing | 0.998 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/E | 0.165 | likely_benign | 0.1973 | benign | -0.526 | Destabilizing | 0.002 | N | 0.142 | neutral | N | 0.455539257 | None | None | N |
| D/F | 0.7544 | likely_pathogenic | 0.8055 | pathogenic | -0.298 | Destabilizing | 0.998 | D | 0.653 | neutral | None | None | None | None | N |
| D/G | 0.1067 | likely_benign | 0.1168 | benign | -0.914 | Destabilizing | 0.918 | D | 0.536 | neutral | N | 0.4285633 | None | None | N |
| D/H | 0.3915 | ambiguous | 0.4496 | ambiguous | -0.373 | Destabilizing | 0.131 | N | 0.342 | neutral | N | 0.503517781 | None | None | N |
| D/I | 0.6415 | likely_pathogenic | 0.7204 | pathogenic | 0.09 | Stabilizing | 0.998 | D | 0.647 | neutral | None | None | None | None | N |
| D/K | 0.4087 | ambiguous | 0.4643 | ambiguous | -0.25 | Destabilizing | 0.974 | D | 0.546 | neutral | None | None | None | None | N |
| D/L | 0.5596 | ambiguous | 0.6138 | pathogenic | 0.09 | Stabilizing | 0.996 | D | 0.616 | neutral | None | None | None | None | N |
| D/M | 0.7342 | likely_pathogenic | 0.7918 | pathogenic | 0.379 | Stabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| D/N | 0.1029 | likely_benign | 0.1193 | benign | -0.626 | Destabilizing | 0.874 | D | 0.509 | neutral | N | 0.465385318 | None | None | N |
| D/P | 0.8963 | likely_pathogenic | 0.9081 | pathogenic | -0.128 | Destabilizing | 0.912 | D | 0.543 | neutral | None | None | None | None | N |
| D/Q | 0.4027 | ambiguous | 0.4619 | ambiguous | -0.539 | Destabilizing | 0.98 | D | 0.455 | neutral | None | None | None | None | N |
| D/R | 0.455 | ambiguous | 0.5099 | ambiguous | 0.003 | Stabilizing | 0.996 | D | 0.572 | neutral | None | None | None | None | N |
| D/S | 0.1702 | likely_benign | 0.2009 | benign | -0.801 | Destabilizing | 0.954 | D | 0.473 | neutral | None | None | None | None | N |
| D/T | 0.4301 | ambiguous | 0.4866 | ambiguous | -0.578 | Destabilizing | 0.902 | D | 0.523 | neutral | None | None | None | None | N |
| D/V | 0.3899 | ambiguous | 0.4602 | ambiguous | -0.128 | Destabilizing | 0.986 | D | 0.617 | neutral | N | 0.48105866 | None | None | N |
| D/W | 0.9013 | likely_pathogenic | 0.9222 | pathogenic | -0.076 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/Y | 0.3121 | likely_benign | 0.3516 | ambiguous | -0.06 | Destabilizing | 0.995 | D | 0.651 | neutral | N | 0.492414965 | 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.