Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33022 | 99289;99290;99291 | chr2:178538765;178538764;178538763 | chr2:179403492;179403491;179403490 |
| N2AB | 31381 | 94366;94367;94368 | chr2:178538765;178538764;178538763 | chr2:179403492;179403491;179403490 |
| N2A | 30454 | 91585;91586;91587 | chr2:178538765;178538764;178538763 | chr2:179403492;179403491;179403490 |
| N2B | 23957 | 72094;72095;72096 | chr2:178538765;178538764;178538763 | chr2:179403492;179403491;179403490 |
| Novex-1 | 24082 | 72469;72470;72471 | chr2:178538765;178538764;178538763 | chr2:179403492;179403491;179403490 |
| Novex-2 | 24149 | 72670;72671;72672 | chr2:178538765;178538764;178538763 | chr2:179403492;179403491;179403490 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs987137780  |
-0.77 | 1.0 | D | 0.921 | 0.621 | 0.806718744816 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| P/L | rs987137780 |
-0.77 | 1.0 | D | 0.921 | 0.621 | 0.806718744816 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| P/L | rs987137780 |
-0.77 | 1.0 | D | 0.921 | 0.621 | 0.806718744816 | gnomAD-4.0.0 | 6.19783E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47673E-06 | 0 | 0 |
| P/T | rs779645034 |
-2.023 | 1.0 | D | 0.858 | 0.624 | 0.628675003835 | 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 |
| P/T | rs779645034 |
-2.023 | 1.0 | D | 0.858 | 0.624 | 0.628675003835 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs779645034 |
-2.023 | 1.0 | D | 0.858 | 0.624 | 0.628675003835 | gnomAD-4.0.0 | 1.23958E-06 | None | None | None | None | N | None | 1.33586E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09808E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7926 | likely_pathogenic | 0.7953 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.586008155 | None | None | N |
| P/C | 0.9899 | likely_pathogenic | 0.9898 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/D | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/E | 0.9946 | likely_pathogenic | 0.9939 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| P/G | 0.9762 | likely_pathogenic | 0.9748 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/H | 0.996 | likely_pathogenic | 0.9952 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.653709152 | None | None | N |
| P/I | 0.9914 | likely_pathogenic | 0.99 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| P/K | 0.9981 | likely_pathogenic | 0.9978 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/L | 0.964 | likely_pathogenic | 0.9587 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.615321622 | None | None | N |
| P/M | 0.9916 | likely_pathogenic | 0.991 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/N | 0.9962 | likely_pathogenic | 0.9957 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| P/Q | 0.9934 | likely_pathogenic | 0.9926 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/R | 0.994 | likely_pathogenic | 0.9928 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.912 | deleterious | D | 0.602431125 | None | None | N |
| P/S | 0.9654 | likely_pathogenic | 0.9652 | pathogenic | -1.32 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.568888692 | None | None | N |
| P/T | 0.9401 | likely_pathogenic | 0.9349 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.615927035 | None | None | N |
| P/V | 0.9674 | likely_pathogenic | 0.9647 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/Y | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.919 | 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.