Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21400 | 64423;64424;64425 | chr2:178586703;178586702;178586701 | chr2:179451430;179451429;179451428 |
| N2AB | 19759 | 59500;59501;59502 | chr2:178586703;178586702;178586701 | chr2:179451430;179451429;179451428 |
| N2A | 18832 | 56719;56720;56721 | chr2:178586703;178586702;178586701 | chr2:179451430;179451429;179451428 |
| N2B | 12335 | 37228;37229;37230 | chr2:178586703;178586702;178586701 | chr2:179451430;179451429;179451428 |
| Novex-1 | 12460 | 37603;37604;37605 | chr2:178586703;178586702;178586701 | chr2:179451430;179451429;179451428 |
| Novex-2 | 12527 | 37804;37805;37806 | chr2:178586703;178586702;178586701 | chr2:179451430;179451429;179451428 |
| 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/S | rs755708220  |
-1.078 | 1.0 | N | 0.663 | 0.412 | 0.365317461125 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4439 | ambiguous | 0.4105 | ambiguous | -0.802 | Destabilizing | 1.0 | D | 0.583 | neutral | N | 0.474743508 | None | None | N |
| G/C | 0.6964 | likely_pathogenic | 0.6569 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.511574356 | None | None | N |
| G/D | 0.9693 | likely_pathogenic | 0.9613 | pathogenic | -1.791 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.482732452 | None | None | N |
| G/E | 0.9674 | likely_pathogenic | 0.9576 | pathogenic | -1.731 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| G/F | 0.9765 | likely_pathogenic | 0.9741 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/H | 0.9528 | likely_pathogenic | 0.9428 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/I | 0.9654 | likely_pathogenic | 0.9587 | pathogenic | -0.079 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/K | 0.9827 | likely_pathogenic | 0.9789 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| G/L | 0.9732 | likely_pathogenic | 0.9707 | pathogenic | -0.079 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/M | 0.9714 | likely_pathogenic | 0.967 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/N | 0.9354 | likely_pathogenic | 0.9261 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/Q | 0.941 | likely_pathogenic | 0.9324 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/R | 0.9444 | likely_pathogenic | 0.9373 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.526911858 | None | None | N |
| G/S | 0.4172 | ambiguous | 0.3756 | ambiguous | -1.481 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.502149486 | None | None | N |
| G/T | 0.8389 | likely_pathogenic | 0.8016 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| G/V | 0.9344 | likely_pathogenic | 0.9209 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.904 | deleterious | N | 0.521827798 | None | None | N |
| G/W | 0.9706 | likely_pathogenic | 0.964 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/Y | 0.9475 | likely_pathogenic | 0.9351 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.865 | deleterious | 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.