Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7634 | 23125;23126;23127 | chr2:178721119;178721118;178721117 | chr2:179585846;179585845;179585844 |
| N2AB | 7317 | 22174;22175;22176 | chr2:178721119;178721118;178721117 | chr2:179585846;179585845;179585844 |
| N2A | 6390 | 19393;19394;19395 | chr2:178721119;178721118;178721117 | chr2:179585846;179585845;179585844 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/S | rs1472650919  |
-0.635 | 0.999 | D | 0.769 | 0.546 | 0.578813787709 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29567E-04 | 0 |
| G/S | rs1472650919 |
-0.635 | 0.999 | D | 0.769 | 0.546 | 0.578813787709 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs1472650919 |
-0.635 | 0.999 | D | 0.769 | 0.546 | 0.578813787709 | gnomAD-4.0.0 | 3.0448E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40987E-06 | 4.69616E-05 | 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 | 0.5438 | ambiguous | 0.6236 | pathogenic | -0.188 | Destabilizing | 0.998 | D | 0.694 | prob.neutral | D | 0.563464952 | None | None | I |
| G/C | 0.9409 | likely_pathogenic | 0.9628 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | D | 0.607504797 | None | None | I |
| G/D | 0.9866 | likely_pathogenic | 0.9909 | pathogenic | -0.428 | Destabilizing | 0.813 | D | 0.575 | neutral | D | 0.659691841 | None | None | I |
| G/E | 0.992 | likely_pathogenic | 0.9944 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/F | 0.9923 | likely_pathogenic | 0.9952 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/H | 0.9946 | likely_pathogenic | 0.997 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| G/I | 0.9706 | likely_pathogenic | 0.9816 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/K | 0.9969 | likely_pathogenic | 0.9982 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| G/L | 0.9823 | likely_pathogenic | 0.9894 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| G/M | 0.9919 | likely_pathogenic | 0.9946 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| G/N | 0.9871 | likely_pathogenic | 0.9917 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/P | 0.9969 | likely_pathogenic | 0.9983 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/Q | 0.9909 | likely_pathogenic | 0.9946 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/R | 0.9849 | likely_pathogenic | 0.9923 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.644479697 | None | None | I |
| G/S | 0.6212 | likely_pathogenic | 0.7169 | pathogenic | -0.611 | Destabilizing | 0.999 | D | 0.769 | deleterious | D | 0.558902022 | None | None | I |
| G/T | 0.9265 | likely_pathogenic | 0.9472 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| G/V | 0.9335 | likely_pathogenic | 0.9545 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.644479697 | None | None | I |
| G/W | 0.991 | likely_pathogenic | 0.9955 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9928 | likely_pathogenic | 0.996 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | 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.