Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30747 | 92464;92465;92466 | chr2:178549387;178549386;178549385 | chr2:179414114;179414113;179414112 |
| N2AB | 29106 | 87541;87542;87543 | chr2:178549387;178549386;178549385 | chr2:179414114;179414113;179414112 |
| N2A | 28179 | 84760;84761;84762 | chr2:178549387;178549386;178549385 | chr2:179414114;179414113;179414112 |
| N2B | 21682 | 65269;65270;65271 | chr2:178549387;178549386;178549385 | chr2:179414114;179414113;179414112 |
| Novex-1 | 21807 | 65644;65645;65646 | chr2:178549387;178549386;178549385 | chr2:179414114;179414113;179414112 |
| Novex-2 | 21874 | 65845;65846;65847 | chr2:178549387;178549386;178549385 | chr2:179414114;179414113;179414112 |
| 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/C | rs759160905  |
-0.946 | 1.0 | D | 0.795 | 0.644 | 0.708870207477 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/C | rs759160905 |
-0.946 | 1.0 | D | 0.795 | 0.644 | 0.708870207477 | gnomAD-4.0.0 | 6.15793E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09514E-06 | 0 | 0 |
| G/S | rs759160905 |
-0.447 | 1.0 | D | 0.798 | 0.532 | 0.42069145522 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs759160905 |
-0.447 | 1.0 | D | 0.798 | 0.532 | 0.42069145522 | gnomAD-4.0.0 | 6.84214E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9066 | likely_pathogenic | 0.9158 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.525009986 | None | None | I |
| G/C | 0.9674 | likely_pathogenic | 0.9724 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.548990045 | None | None | I |
| G/D | 0.9878 | likely_pathogenic | 0.9891 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.520628667 | None | None | I |
| G/E | 0.9925 | likely_pathogenic | 0.9935 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/F | 0.9959 | likely_pathogenic | 0.9971 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/H | 0.9907 | likely_pathogenic | 0.9931 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/I | 0.9961 | likely_pathogenic | 0.997 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/K | 0.9911 | likely_pathogenic | 0.9926 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/L | 0.9946 | likely_pathogenic | 0.9956 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/M | 0.9969 | likely_pathogenic | 0.9977 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.9792 | likely_pathogenic | 0.9829 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/Q | 0.9891 | likely_pathogenic | 0.9913 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/R | 0.9721 | likely_pathogenic | 0.9748 | pathogenic | -0.159 | Destabilizing | 1.0 | D | 0.842 | deleterious | N | 0.508538346 | None | None | I |
| G/S | 0.8483 | likely_pathogenic | 0.8586 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.523996028 | None | None | I |
| G/T | 0.9853 | likely_pathogenic | 0.9871 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/V | 0.992 | likely_pathogenic | 0.9936 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.54215319 | None | None | I |
| G/W | 0.9897 | likely_pathogenic | 0.9924 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/Y | 0.9927 | likely_pathogenic | 0.9947 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
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.