Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14720 | 44383;44384;44385 | chr2:178630364;178630363;178630362 | chr2:179495091;179495090;179495089 |
| N2AB | 13079 | 39460;39461;39462 | chr2:178630364;178630363;178630362 | chr2:179495091;179495090;179495089 |
| N2A | 12152 | 36679;36680;36681 | chr2:178630364;178630363;178630362 | chr2:179495091;179495090;179495089 |
| N2B | 5655 | 17188;17189;17190 | chr2:178630364;178630363;178630362 | chr2:179495091;179495090;179495089 |
| Novex-1 | 5780 | 17563;17564;17565 | chr2:178630364;178630363;178630362 | chr2:179495091;179495090;179495089 |
| Novex-2 | 5847 | 17764;17765;17766 | chr2:178630364;178630363;178630362 | chr2:179495091;179495090;179495089 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | rs752834664  |
-1.288 | 0.994 | N | 0.849 | 0.404 | 0.402614778071 | gnomAD-2.1.1 | 1.7E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.68E-05 | 0 |
| C/F | rs752834664 |
-1.288 | 0.994 | N | 0.849 | 0.404 | 0.402614778071 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/F | rs752834664 |
-1.288 | 0.994 | N | 0.849 | 0.404 | 0.402614778071 | gnomAD-4.0.0 | 1.93823E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.29545E-05 | 1.14927E-05 | 4.84152E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5959 | likely_pathogenic | 0.6551 | pathogenic | -1.775 | Destabilizing | 0.926 | D | 0.607 | neutral | None | None | None | None | N |
| C/D | 0.9683 | likely_pathogenic | 0.9712 | pathogenic | -1.749 | Destabilizing | 0.998 | D | 0.879 | deleterious | None | None | None | None | N |
| C/E | 0.975 | likely_pathogenic | 0.9776 | pathogenic | -1.578 | Destabilizing | 0.998 | D | 0.877 | deleterious | None | None | None | None | N |
| C/F | 0.4332 | ambiguous | 0.5045 | ambiguous | -1.158 | Destabilizing | 0.994 | D | 0.849 | deleterious | N | 0.426792734 | None | None | N |
| C/G | 0.4846 | ambiguous | 0.5043 | ambiguous | -2.101 | Highly Destabilizing | 0.998 | D | 0.81 | deleterious | N | 0.504573295 | None | None | N |
| C/H | 0.8527 | likely_pathogenic | 0.8763 | pathogenic | -2.436 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| C/I | 0.5071 | ambiguous | 0.6132 | pathogenic | -0.911 | Destabilizing | 0.939 | D | 0.672 | prob.neutral | None | None | None | None | N |
| C/K | 0.9698 | likely_pathogenic | 0.9725 | pathogenic | -1.678 | Destabilizing | 0.998 | D | 0.857 | deleterious | None | None | None | None | N |
| C/L | 0.6719 | likely_pathogenic | 0.7428 | pathogenic | -0.911 | Destabilizing | 0.863 | D | 0.649 | prob.neutral | None | None | None | None | N |
| C/M | 0.7497 | likely_pathogenic | 0.8118 | pathogenic | 0.222 | Stabilizing | 0.995 | D | 0.767 | deleterious | None | None | None | None | N |
| C/N | 0.8304 | likely_pathogenic | 0.8557 | pathogenic | -1.979 | Destabilizing | 0.998 | D | 0.863 | deleterious | None | None | None | None | N |
| C/P | 0.996 | likely_pathogenic | 0.9963 | pathogenic | -1.176 | Destabilizing | 0.998 | D | 0.871 | deleterious | None | None | None | None | N |
| C/Q | 0.92 | likely_pathogenic | 0.9312 | pathogenic | -1.691 | Destabilizing | 0.998 | D | 0.849 | deleterious | None | None | None | None | N |
| C/R | 0.8252 | likely_pathogenic | 0.8181 | pathogenic | -1.804 | Destabilizing | 0.998 | D | 0.865 | deleterious | N | 0.503071326 | None | None | N |
| C/S | 0.5263 | ambiguous | 0.5495 | ambiguous | -2.298 | Highly Destabilizing | 0.979 | D | 0.754 | deleterious | N | 0.503071326 | None | None | N |
| C/T | 0.5328 | ambiguous | 0.5994 | pathogenic | -1.966 | Destabilizing | 0.968 | D | 0.729 | deleterious | None | None | None | None | N |
| C/V | 0.4088 | ambiguous | 0.4936 | ambiguous | -1.176 | Destabilizing | 0.147 | N | 0.427 | neutral | None | None | None | None | N |
| C/W | 0.8055 | likely_pathogenic | 0.824 | pathogenic | -1.512 | Destabilizing | 0.999 | D | 0.82 | deleterious | N | 0.443696823 | None | None | N |
| C/Y | 0.568 | likely_pathogenic | 0.6203 | pathogenic | -1.371 | Destabilizing | 0.998 | D | 0.825 | deleterious | N | 0.424768078 | 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.