Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25984 | 78175;78176;78177 | chr2:178568182;178568181;178568180 | chr2:179432909;179432908;179432907 |
| N2AB | 24343 | 73252;73253;73254 | chr2:178568182;178568181;178568180 | chr2:179432909;179432908;179432907 |
| N2A | 23416 | 70471;70472;70473 | chr2:178568182;178568181;178568180 | chr2:179432909;179432908;179432907 |
| N2B | 16919 | 50980;50981;50982 | chr2:178568182;178568181;178568180 | chr2:179432909;179432908;179432907 |
| Novex-1 | 17044 | 51355;51356;51357 | chr2:178568182;178568181;178568180 | chr2:179432909;179432908;179432907 |
| Novex-2 | 17111 | 51556;51557;51558 | chr2:178568182;178568181;178568180 | chr2:179432909;179432908;179432907 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs766906797  |
-3.042 | 1.0 | N | 0.806 | 0.454 | 0.640041731404 | 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 |
| A/D | rs766906797 |
-3.042 | 1.0 | N | 0.806 | 0.454 | 0.640041731404 | gnomAD-4.0.0 | 2.05294E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47834E-05 | 0 |
| A/V | None | None | 0.999 | N | 0.667 | 0.258 | 0.410734915765 | gnomAD-4.0.0 | 6.84314E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99616E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6673 | likely_pathogenic | 0.6197 | pathogenic | -1.955 | Destabilizing | 1.0 | D | 0.729 | deleterious | None | None | None | None | N |
| A/D | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -2.901 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.517336984 | None | None | N |
| A/E | 0.9942 | likely_pathogenic | 0.9948 | pathogenic | -2.71 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/F | 0.9571 | likely_pathogenic | 0.9545 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/G | 0.6925 | likely_pathogenic | 0.6788 | pathogenic | -1.787 | Destabilizing | 0.999 | D | 0.607 | neutral | N | 0.516576516 | None | None | N |
| A/H | 0.9964 | likely_pathogenic | 0.9965 | pathogenic | -1.891 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| A/I | 0.4562 | ambiguous | 0.4604 | ambiguous | -0.263 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| A/K | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -1.342 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| A/L | 0.5516 | ambiguous | 0.5299 | ambiguous | -0.263 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/M | 0.7739 | likely_pathogenic | 0.768 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/N | 0.9846 | likely_pathogenic | 0.9844 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/P | 0.8049 | likely_pathogenic | 0.7643 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.487115955 | None | None | N |
| A/Q | 0.9871 | likely_pathogenic | 0.9885 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/R | 0.9922 | likely_pathogenic | 0.9926 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| A/S | 0.4077 | ambiguous | 0.4116 | ambiguous | -2.124 | Highly Destabilizing | 0.999 | D | 0.647 | neutral | N | 0.504459742 | None | None | N |
| A/T | 0.483 | ambiguous | 0.4738 | ambiguous | -1.819 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.469719262 | None | None | N |
| A/V | 0.2057 | likely_benign | 0.2069 | benign | -0.595 | Destabilizing | 0.999 | D | 0.667 | prob.neutral | N | 0.494713721 | None | None | N |
| A/W | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -1.485 | Destabilizing | 1.0 | D | 0.733 | deleterious | None | None | None | None | N |
| A/Y | 0.9911 | likely_pathogenic | 0.9909 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.81 | 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.