Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32872 | 98839;98840;98841 | chr2:178539451;178539450;178539449 | chr2:179404178;179404177;179404176 |
| N2AB | 31231 | 93916;93917;93918 | chr2:178539451;178539450;178539449 | chr2:179404178;179404177;179404176 |
| N2A | 30304 | 91135;91136;91137 | chr2:178539451;178539450;178539449 | chr2:179404178;179404177;179404176 |
| N2B | 23807 | 71644;71645;71646 | chr2:178539451;178539450;178539449 | chr2:179404178;179404177;179404176 |
| Novex-1 | 23932 | 72019;72020;72021 | chr2:178539451;178539450;178539449 | chr2:179404178;179404177;179404176 |
| Novex-2 | 23999 | 72220;72221;72222 | chr2:178539451;178539450;178539449 | chr2:179404178;179404177;179404176 |
| 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/E | None | None | 0.993 | D | 0.811 | 0.769 | 0.769386222844 | gnomAD-4.0.0 | 6.84197E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9946E-07 | 0 | 0 |
| A/G | rs150288160  |
-2.121 | 0.955 | D | 0.605 | 0.702 | None | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67075E-04 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs150288160 |
-2.121 | 0.955 | D | 0.605 | 0.702 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.7101E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs150288160 |
-2.121 | 0.955 | D | 0.605 | 0.702 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| A/G | rs150288160 |
-2.121 | 0.955 | D | 0.605 | 0.702 | None | gnomAD-4.0.0 | 2.35467E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.02318E-04 | None | 0 | 0 | 0 | 0 | 3.20123E-05 |
| A/S | rs1326692589 |
-2.073 | 0.568 | N | 0.362 | 0.496 | 0.29527378943 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| A/S | rs1326692589 |
-2.073 | 0.568 | N | 0.362 | 0.496 | 0.29527378943 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85822E-06 | 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 | 0.7844 | likely_pathogenic | 0.6784 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/D | 0.9965 | likely_pathogenic | 0.9933 | pathogenic | -3.135 | Highly Destabilizing | 0.995 | D | 0.903 | deleterious | None | None | None | None | N |
| A/E | 0.9923 | likely_pathogenic | 0.9855 | pathogenic | -2.912 | Highly Destabilizing | 0.993 | D | 0.811 | deleterious | D | 0.5753985 | None | None | N |
| A/F | 0.9866 | likely_pathogenic | 0.9777 | pathogenic | -0.987 | Destabilizing | 0.999 | D | 0.935 | deleterious | None | None | None | None | N |
| A/G | 0.3987 | ambiguous | 0.3425 | ambiguous | -2.255 | Highly Destabilizing | 0.955 | D | 0.605 | neutral | D | 0.539137083 | None | None | N |
| A/H | 0.9968 | likely_pathogenic | 0.9937 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| A/I | 0.9486 | likely_pathogenic | 0.9234 | pathogenic | -0.671 | Destabilizing | 0.998 | D | 0.837 | deleterious | None | None | None | None | N |
| A/K | 0.9984 | likely_pathogenic | 0.997 | pathogenic | -1.567 | Destabilizing | 0.995 | D | 0.812 | deleterious | None | None | None | None | N |
| A/L | 0.8934 | likely_pathogenic | 0.8636 | pathogenic | -0.671 | Destabilizing | 0.983 | D | 0.754 | deleterious | None | None | None | None | N |
| A/M | 0.9482 | likely_pathogenic | 0.9153 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/N | 0.9918 | likely_pathogenic | 0.9826 | pathogenic | -2.089 | Highly Destabilizing | 0.995 | D | 0.909 | deleterious | None | None | None | None | N |
| A/P | 0.9452 | likely_pathogenic | 0.9224 | pathogenic | -1.027 | Destabilizing | 0.997 | D | 0.84 | deleterious | D | 0.552014326 | None | None | N |
| A/Q | 0.9876 | likely_pathogenic | 0.9794 | pathogenic | -1.877 | Destabilizing | 0.998 | D | 0.841 | deleterious | None | None | None | None | N |
| A/R | 0.9926 | likely_pathogenic | 0.9894 | pathogenic | -1.587 | Destabilizing | 0.995 | D | 0.847 | deleterious | None | None | None | None | N |
| A/S | 0.3134 | likely_benign | 0.2067 | benign | -2.442 | Highly Destabilizing | 0.568 | D | 0.362 | neutral | N | 0.519614023 | None | None | N |
| A/T | 0.6587 | likely_pathogenic | 0.482 | ambiguous | -2.104 | Highly Destabilizing | 0.955 | D | 0.628 | neutral | D | 0.542037145 | None | None | N |
| A/V | 0.7492 | likely_pathogenic | 0.6511 | pathogenic | -1.027 | Destabilizing | 0.977 | D | 0.701 | prob.neutral | D | 0.537669052 | None | None | N |
| A/W | 0.9984 | likely_pathogenic | 0.9973 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/Y | 0.9953 | likely_pathogenic | 0.9917 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.935 | 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.