Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8951 | 27076;27077;27078 | chr2:178713283;178713282;178713281 | chr2:179578010;179578009;179578008 |
| N2AB | 8634 | 26125;26126;26127 | chr2:178713283;178713282;178713281 | chr2:179578010;179578009;179578008 |
| N2A | 7707 | 23344;23345;23346 | chr2:178713283;178713282;178713281 | chr2:179578010;179578009;179578008 |
| 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/E | rs1192471071  |
-0.51 | 1.0 | D | 0.818 | 0.705 | 0.816617097628 | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.45E-05 | None | 0 | 0 | 0 |
| G/E | rs1192471071 |
-0.51 | 1.0 | D | 0.818 | 0.705 | 0.816617097628 | gnomAD-4.0.0 | 3.43499E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.87378E-05 | 0 |
| G/R | None | None | 1.0 | D | 0.809 | 0.755 | 0.874868149248 | gnomAD-4.0.0 | 6.8717E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02131E-07 | 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 | 0.7142 | likely_pathogenic | 0.7738 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.543498792 | None | None | I |
| G/C | 0.9499 | likely_pathogenic | 0.9604 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/D | 0.99 | likely_pathogenic | 0.9924 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/E | 0.9941 | likely_pathogenic | 0.9954 | pathogenic | -0.624 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.616934261 | None | None | I |
| G/F | 0.9936 | likely_pathogenic | 0.9956 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| G/H | 0.9953 | likely_pathogenic | 0.9969 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | I |
| G/I | 0.986 | likely_pathogenic | 0.9895 | pathogenic | -0.165 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| G/K | 0.9969 | likely_pathogenic | 0.9978 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/L | 0.9887 | likely_pathogenic | 0.993 | pathogenic | -0.165 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/M | 0.9955 | likely_pathogenic | 0.997 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/N | 0.9917 | likely_pathogenic | 0.9942 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/P | 0.9976 | likely_pathogenic | 0.9983 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/Q | 0.9926 | likely_pathogenic | 0.9946 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/R | 0.9834 | likely_pathogenic | 0.9881 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.652837625 | None | None | I |
| G/S | 0.7239 | likely_pathogenic | 0.7898 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/T | 0.9625 | likely_pathogenic | 0.9736 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/V | 0.9703 | likely_pathogenic | 0.9773 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.620566738 | None | None | I |
| G/W | 0.9907 | likely_pathogenic | 0.993 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.653241233 | None | None | I |
| G/Y | 0.9935 | likely_pathogenic | 0.9956 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.747 | 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.