Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30648 | 92167;92168;92169 | chr2:178549780;178549779;178549778 | chr2:179414507;179414506;179414505 |
| N2AB | 29007 | 87244;87245;87246 | chr2:178549780;178549779;178549778 | chr2:179414507;179414506;179414505 |
| N2A | 28080 | 84463;84464;84465 | chr2:178549780;178549779;178549778 | chr2:179414507;179414506;179414505 |
| N2B | 21583 | 64972;64973;64974 | chr2:178549780;178549779;178549778 | chr2:179414507;179414506;179414505 |
| Novex-1 | 21708 | 65347;65348;65349 | chr2:178549780;178549779;178549778 | chr2:179414507;179414506;179414505 |
| Novex-2 | 21775 | 65548;65549;65550 | chr2:178549780;178549779;178549778 | chr2:179414507;179414506;179414505 |
| 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/D | None | None | 1.0 | D | 0.833 | 0.593 | 0.472582640538 | gnomAD-4.0.0 | 6.84795E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52156E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs776885297  |
-0.507 | 1.0 | D | 0.795 | 0.554 | 0.390220360785 | gnomAD-2.1.1 | 4.43E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.82E-05 | None | 0 | 7.11E-05 | 0 |
| G/S | rs776885297 |
-0.507 | 1.0 | D | 0.795 | 0.554 | 0.390220360785 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs776885297 |
-0.507 | 1.0 | D | 0.795 | 0.554 | 0.390220360785 | gnomAD-4.0.0 | 1.67486E-05 | None | None | None | None | I | None | 1.33536E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6971E-05 | 4.3956E-05 | 3.20729E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9328 | likely_pathogenic | 0.9384 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.55105396 | None | None | I |
| G/C | 0.9828 | likely_pathogenic | 0.9847 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.552321407 | None | None | I |
| G/D | 0.9937 | likely_pathogenic | 0.9946 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.538176717 | None | None | I |
| G/E | 0.9971 | likely_pathogenic | 0.9976 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/F | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/H | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/I | 0.9974 | likely_pathogenic | 0.9977 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/K | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/L | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/M | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/N | 0.9945 | likely_pathogenic | 0.9943 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/Q | 0.9973 | likely_pathogenic | 0.9975 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/R | 0.9897 | likely_pathogenic | 0.9917 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.832 | deleterious | N | 0.507350258 | None | None | I |
| G/S | 0.9135 | likely_pathogenic | 0.9182 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.538430207 | None | None | I |
| G/T | 0.9932 | likely_pathogenic | 0.9931 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/V | 0.9944 | likely_pathogenic | 0.9952 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.533710173 | None | None | I |
| G/W | 0.9968 | likely_pathogenic | 0.9976 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Y | 0.9974 | likely_pathogenic | 0.9976 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.783 | 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.