Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27620 | 83083;83084;83085 | chr2:178563274;178563273;178563272 | chr2:179428001;179428000;179427999 |
| N2AB | 25979 | 78160;78161;78162 | chr2:178563274;178563273;178563272 | chr2:179428001;179428000;179427999 |
| N2A | 25052 | 75379;75380;75381 | chr2:178563274;178563273;178563272 | chr2:179428001;179428000;179427999 |
| N2B | 18555 | 55888;55889;55890 | chr2:178563274;178563273;178563272 | chr2:179428001;179428000;179427999 |
| Novex-1 | 18680 | 56263;56264;56265 | chr2:178563274;178563273;178563272 | chr2:179428001;179428000;179427999 |
| Novex-2 | 18747 | 56464;56465;56466 | chr2:178563274;178563273;178563272 | chr2:179428001;179428000;179427999 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | rs762472521  |
-1.422 | 1.0 | N | 0.817 | 0.309 | 0.763041169147 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| C/F | rs762472521 |
-1.422 | 1.0 | N | 0.817 | 0.309 | 0.763041169147 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/F | rs762472521 |
-1.422 | 1.0 | N | 0.817 | 0.309 | 0.763041169147 | gnomAD-4.0.0 | 3.09879E-06 | None | None | None | None | N | None | 1.33526E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39066E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4084 | ambiguous | 0.37 | ambiguous | -1.555 | Destabilizing | 0.998 | D | 0.491 | neutral | None | None | None | None | N |
| C/D | 0.9244 | likely_pathogenic | 0.8872 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| C/E | 0.9221 | likely_pathogenic | 0.898 | pathogenic | 0.296 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| C/F | 0.351 | ambiguous | 0.2973 | benign | -1.046 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.480555362 | None | None | N |
| C/G | 0.4467 | ambiguous | 0.3767 | ambiguous | -1.856 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.489673623 | None | None | N |
| C/H | 0.7527 | likely_pathogenic | 0.6747 | pathogenic | -1.781 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| C/I | 0.3865 | ambiguous | 0.3551 | ambiguous | -0.784 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| C/K | 0.9158 | likely_pathogenic | 0.8781 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| C/L | 0.5268 | ambiguous | 0.4772 | ambiguous | -0.784 | Destabilizing | 0.999 | D | 0.521 | neutral | None | None | None | None | N |
| C/M | 0.6827 | likely_pathogenic | 0.6452 | pathogenic | -0.028 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| C/N | 0.7904 | likely_pathogenic | 0.7354 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| C/P | 0.9504 | likely_pathogenic | 0.9338 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| C/Q | 0.8121 | likely_pathogenic | 0.7681 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| C/R | 0.6794 | likely_pathogenic | 0.606 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.822 | deleterious | N | 0.499420085 | None | None | N |
| C/S | 0.4347 | ambiguous | 0.3797 | ambiguous | -1.158 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.493432604 | None | None | N |
| C/T | 0.5794 | likely_pathogenic | 0.5178 | ambiguous | -0.838 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| C/V | 0.2806 | likely_benign | 0.2532 | benign | -1.015 | Destabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| C/W | 0.7835 | likely_pathogenic | 0.7266 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.524921081 | None | None | N |
| C/Y | 0.5399 | ambiguous | 0.4637 | ambiguous | -0.977 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.496902098 | 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.