Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22037 | 66334;66335;66336 | chr2:178582347;178582346;178582345 | chr2:179447074;179447073;179447072 |
| N2AB | 20396 | 61411;61412;61413 | chr2:178582347;178582346;178582345 | chr2:179447074;179447073;179447072 |
| N2A | 19469 | 58630;58631;58632 | chr2:178582347;178582346;178582345 | chr2:179447074;179447073;179447072 |
| N2B | 12972 | 39139;39140;39141 | chr2:178582347;178582346;178582345 | chr2:179447074;179447073;179447072 |
| Novex-1 | 13097 | 39514;39515;39516 | chr2:178582347;178582346;178582345 | chr2:179447074;179447073;179447072 |
| Novex-2 | 13164 | 39715;39716;39717 | chr2:178582347;178582346;178582345 | chr2:179447074;179447073;179447072 |
| 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/E | rs750482174  |
-0.622 | 1.0 | D | 0.909 | 0.755 | 0.70718994021 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/E | rs750482174 |
-0.622 | 1.0 | D | 0.909 | 0.755 | 0.70718994021 | gnomAD-4.0.0 | 3.43143E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50758E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9461 | likely_pathogenic | 0.9416 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.571596157 | None | None | I |
| G/C | 0.9855 | likely_pathogenic | 0.9813 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/D | 0.9932 | likely_pathogenic | 0.9895 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | I |
| G/E | 0.9965 | likely_pathogenic | 0.9952 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.571596157 | None | None | I |
| G/F | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/H | 0.998 | likely_pathogenic | 0.9968 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/I | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
| G/K | 0.9982 | likely_pathogenic | 0.9974 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/L | 0.9967 | likely_pathogenic | 0.9962 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/M | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/N | 0.9962 | likely_pathogenic | 0.9945 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| G/Q | 0.9952 | likely_pathogenic | 0.9936 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| G/R | 0.9916 | likely_pathogenic | 0.988 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.560493341 | None | None | I |
| G/S | 0.9379 | likely_pathogenic | 0.9133 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/T | 0.9927 | likely_pathogenic | 0.9898 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| G/V | 0.9958 | likely_pathogenic | 0.9947 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.56074683 | None | None | I |
| G/W | 0.9964 | likely_pathogenic | 0.9948 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/Y | 0.9976 | likely_pathogenic | 0.9967 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.891 | 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.