Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18236 | 54931;54932;54933 | chr2:178603981;178603980;178603979 | chr2:179468708;179468707;179468706 |
| N2AB | 16595 | 50008;50009;50010 | chr2:178603981;178603980;178603979 | chr2:179468708;179468707;179468706 |
| N2A | 15668 | 47227;47228;47229 | chr2:178603981;178603980;178603979 | chr2:179468708;179468707;179468706 |
| N2B | 9171 | 27736;27737;27738 | chr2:178603981;178603980;178603979 | chr2:179468708;179468707;179468706 |
| Novex-1 | 9296 | 28111;28112;28113 | chr2:178603981;178603980;178603979 | chr2:179468708;179468707;179468706 |
| Novex-2 | 9363 | 28312;28313;28314 | chr2:178603981;178603980;178603979 | chr2:179468708;179468707;179468706 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1273412223  |
-2.082 | 1.0 | D | 0.867 | 0.687 | 0.856038879355 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs1273412223 |
-2.082 | 1.0 | D | 0.867 | 0.687 | 0.856038879355 | gnomAD-4.0.0 | 1.59341E-06 | None | None | None | None | N | None | 0 | 2.28739E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/S | None | None | 1.0 | D | 0.854 | 0.818 | 0.940916431798 | gnomAD-4.0.0 | 2.05377E-06 | None | None | None | None | N | None | 8.97935E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/W | None | None | 1.0 | D | 0.789 | 0.764 | 0.937323672544 | gnomAD-4.0.0 | 6.84589E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16015E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9609 | likely_pathogenic | 0.9517 | pathogenic | -2.675 | Highly Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| L/C | 0.9217 | likely_pathogenic | 0.9116 | pathogenic | -2.229 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| L/D | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -2.68 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| L/E | 0.9922 | likely_pathogenic | 0.9922 | pathogenic | -2.468 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| L/F | 0.908 | likely_pathogenic | 0.841 | pathogenic | -1.733 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.634330508 | None | None | N |
| L/G | 0.9871 | likely_pathogenic | 0.9833 | pathogenic | -3.226 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| L/H | 0.9875 | likely_pathogenic | 0.983 | pathogenic | -2.583 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| L/I | 0.3664 | ambiguous | 0.2975 | benign | -1.095 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| L/K | 0.9842 | likely_pathogenic | 0.9874 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| L/M | 0.5281 | ambiguous | 0.5021 | ambiguous | -1.123 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.564681112 | None | None | N |
| L/N | 0.9863 | likely_pathogenic | 0.9867 | pathogenic | -2.383 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| L/P | 0.9875 | likely_pathogenic | 0.9853 | pathogenic | -1.601 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| L/Q | 0.9699 | likely_pathogenic | 0.9654 | pathogenic | -2.272 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| L/R | 0.973 | likely_pathogenic | 0.9693 | pathogenic | -1.739 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| L/S | 0.993 | likely_pathogenic | 0.9906 | pathogenic | -3.169 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.651157086 | None | None | N |
| L/T | 0.9569 | likely_pathogenic | 0.9553 | pathogenic | -2.796 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| L/V | 0.4089 | ambiguous | 0.3447 | ambiguous | -1.601 | Destabilizing | 0.999 | D | 0.807 | deleterious | D | 0.56958693 | None | None | N |
| L/W | 0.9903 | likely_pathogenic | 0.9794 | pathogenic | -2.024 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.651157086 | None | None | N |
| L/Y | 0.9874 | likely_pathogenic | 0.9802 | pathogenic | -1.761 | Destabilizing | 1.0 | D | 0.838 | 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.