Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19606 | 59041;59042;59043 | chr2:178593392;178593391;178593390 | chr2:179458119;179458118;179458117 |
| N2AB | 17965 | 54118;54119;54120 | chr2:178593392;178593391;178593390 | chr2:179458119;179458118;179458117 |
| N2A | 17038 | 51337;51338;51339 | chr2:178593392;178593391;178593390 | chr2:179458119;179458118;179458117 |
| N2B | 10541 | 31846;31847;31848 | chr2:178593392;178593391;178593390 | chr2:179458119;179458118;179458117 |
| Novex-1 | 10666 | 32221;32222;32223 | chr2:178593392;178593391;178593390 | chr2:179458119;179458118;179458117 |
| Novex-2 | 10733 | 32422;32423;32424 | chr2:178593392;178593391;178593390 | chr2:179458119;179458118;179458117 |
| 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/R | rs1432502770  |
-0.59 | 1.0 | N | 0.837 | 0.583 | 0.725244559022 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87853E-04 | 0 | 0 |
| G/R | rs1432502770 |
-0.59 | 1.0 | N | 0.837 | 0.583 | 0.725244559022 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 0 | 0 | 0 |
| G/R | rs1432502770 |
-0.59 | 1.0 | N | 0.837 | 0.583 | 0.725244559022 | gnomAD-4.0.0 | 3.84581E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.13903E-05 | 0 | 2.39422E-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 | 0.7489 | likely_pathogenic | 0.735 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.525853496 | None | None | I |
| G/C | 0.8499 | likely_pathogenic | 0.838 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/D | 0.9431 | likely_pathogenic | 0.939 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/E | 0.9718 | likely_pathogenic | 0.9713 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.535323697 | None | None | I |
| G/F | 0.9839 | likely_pathogenic | 0.9842 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/H | 0.9646 | likely_pathogenic | 0.9615 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/I | 0.9886 | likely_pathogenic | 0.9881 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.9776 | likely_pathogenic | 0.9764 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/L | 0.9825 | likely_pathogenic | 0.9809 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/M | 0.9864 | likely_pathogenic | 0.9856 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.877 | likely_pathogenic | 0.8697 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/Q | 0.9623 | likely_pathogenic | 0.9604 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/R | 0.9277 | likely_pathogenic | 0.9212 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.511939523 | None | None | I |
| G/S | 0.6273 | likely_pathogenic | 0.6059 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/T | 0.949 | likely_pathogenic | 0.9449 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/V | 0.9744 | likely_pathogenic | 0.9735 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.535577187 | None | None | I |
| G/W | 0.9568 | likely_pathogenic | 0.9594 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/Y | 0.9651 | likely_pathogenic | 0.9656 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.789 | 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.