Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25926 | 78001;78002;78003 | chr2:178568356;178568355;178568354 | chr2:179433083;179433082;179433081 |
| N2AB | 24285 | 73078;73079;73080 | chr2:178568356;178568355;178568354 | chr2:179433083;179433082;179433081 |
| N2A | 23358 | 70297;70298;70299 | chr2:178568356;178568355;178568354 | chr2:179433083;179433082;179433081 |
| N2B | 16861 | 50806;50807;50808 | chr2:178568356;178568355;178568354 | chr2:179433083;179433082;179433081 |
| Novex-1 | 16986 | 51181;51182;51183 | chr2:178568356;178568355;178568354 | chr2:179433083;179433082;179433081 |
| Novex-2 | 17053 | 51382;51383;51384 | chr2:178568356;178568355;178568354 | chr2:179433083;179433082;179433081 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1706759391  |
None | 1.0 | D | 0.885 | 0.877 | 0.892191049449 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs1706759391 |
None | 1.0 | D | 0.885 | 0.877 | 0.892191049449 | gnomAD-4.0.0 | 5.12655E-06 | None | None | None | None | N | None | 0 | 1.69584E-05 | None | 0 | 0 | None | 0 | 0 | 7.18246E-06 | 0 | 0 |
| Y/H | rs767986866 |
-2.815 | 1.0 | D | 0.803 | 0.839 | 0.799056834461 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| Y/H | rs767986866 |
-2.815 | 1.0 | D | 0.803 | 0.839 | 0.799056834461 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| Y/H | rs767986866 |
-2.815 | 1.0 | D | 0.803 | 0.839 | 0.799056834461 | gnomAD-4.0.0 | 6.19864E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54323E-06 | 6.58776E-05 | 1.602E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -3.824 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| Y/C | 0.9598 | likely_pathogenic | 0.9746 | pathogenic | -2.453 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.658602457 | None | None | N |
| Y/D | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -4.103 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.659006066 | None | None | N |
| Y/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.896 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| Y/F | 0.3979 | ambiguous | 0.4838 | ambiguous | -1.508 | Destabilizing | 0.999 | D | 0.647 | neutral | D | 0.551778152 | None | None | N |
| Y/G | 0.9948 | likely_pathogenic | 0.9961 | pathogenic | -4.23 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| Y/H | 0.9878 | likely_pathogenic | 0.9928 | pathogenic | -2.75 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.658602457 | None | None | N |
| Y/I | 0.9879 | likely_pathogenic | 0.9902 | pathogenic | -2.442 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| Y/K | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -2.78 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| Y/L | 0.9692 | likely_pathogenic | 0.9701 | pathogenic | -2.442 | Highly Destabilizing | 0.999 | D | 0.754 | deleterious | None | None | None | None | N |
| Y/M | 0.9932 | likely_pathogenic | 0.9946 | pathogenic | -2.232 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| Y/N | 0.9878 | likely_pathogenic | 0.991 | pathogenic | -3.557 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.659006066 | None | None | N |
| Y/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.923 | Highly Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| Y/Q | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -3.317 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| Y/R | 0.9975 | likely_pathogenic | 0.9982 | pathogenic | -2.409 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/S | 0.9931 | likely_pathogenic | 0.995 | pathogenic | -3.901 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.659006066 | None | None | N |
| Y/T | 0.9974 | likely_pathogenic | 0.9981 | pathogenic | -3.578 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| Y/V | 0.9776 | likely_pathogenic | 0.9804 | pathogenic | -2.923 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| Y/W | 0.9357 | likely_pathogenic | 0.9521 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.787 | 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.