Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18508 | 55747;55748;55749 | chr2:178601475;178601474;178601473 | chr2:179466202;179466201;179466200 |
| N2AB | 16867 | 50824;50825;50826 | chr2:178601475;178601474;178601473 | chr2:179466202;179466201;179466200 |
| N2A | 15940 | 48043;48044;48045 | chr2:178601475;178601474;178601473 | chr2:179466202;179466201;179466200 |
| N2B | 9443 | 28552;28553;28554 | chr2:178601475;178601474;178601473 | chr2:179466202;179466201;179466200 |
| Novex-1 | 9568 | 28927;28928;28929 | chr2:178601475;178601474;178601473 | chr2:179466202;179466201;179466200 |
| Novex-2 | 9635 | 29128;29129;29130 | chr2:178601475;178601474;178601473 | chr2:179466202;179466201;179466200 |
| 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 | None | None | 1.0 | N | 0.798 | 0.615 | 0.512883945787 | gnomAD-4.0.0 | 3.1859E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72305E-06 | 0 | 0 |
| G/R | rs1060500511  |
-0.092 | 1.0 | N | 0.811 | 0.621 | 0.474168873855 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/R | rs1060500511 |
-0.092 | 1.0 | N | 0.811 | 0.621 | 0.474168873855 | gnomAD-4.0.0 | 1.59292E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86148E-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 | 0.8293 | likely_pathogenic | 0.8065 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.484262935 | None | None | I |
| G/C | 0.8975 | likely_pathogenic | 0.8693 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/D | 0.9545 | likely_pathogenic | 0.9549 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | I |
| G/E | 0.9688 | likely_pathogenic | 0.963 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.505293705 | None | None | I |
| G/F | 0.9849 | likely_pathogenic | 0.9831 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/H | 0.98 | likely_pathogenic | 0.9782 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/I | 0.9889 | likely_pathogenic | 0.9879 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/K | 0.9857 | likely_pathogenic | 0.9854 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/L | 0.9685 | likely_pathogenic | 0.9677 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/M | 0.9759 | likely_pathogenic | 0.971 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/N | 0.9147 | likely_pathogenic | 0.9 | pathogenic | -0.097 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/Q | 0.9567 | likely_pathogenic | 0.9526 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/R | 0.9652 | likely_pathogenic | 0.9656 | pathogenic | -0.039 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.494342247 | None | None | I |
| G/S | 0.6575 | likely_pathogenic | 0.6097 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| G/T | 0.9377 | likely_pathogenic | 0.9217 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/V | 0.9804 | likely_pathogenic | 0.9779 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.516143032 | None | None | I |
| G/W | 0.9757 | likely_pathogenic | 0.9787 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/Y | 0.9816 | likely_pathogenic | 0.9784 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.772 | 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.