Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27604 | 83035;83036;83037 | chr2:178563322;178563321;178563320 | chr2:179428049;179428048;179428047 |
| N2AB | 25963 | 78112;78113;78114 | chr2:178563322;178563321;178563320 | chr2:179428049;179428048;179428047 |
| N2A | 25036 | 75331;75332;75333 | chr2:178563322;178563321;178563320 | chr2:179428049;179428048;179428047 |
| N2B | 18539 | 55840;55841;55842 | chr2:178563322;178563321;178563320 | chr2:179428049;179428048;179428047 |
| Novex-1 | 18664 | 56215;56216;56217 | chr2:178563322;178563321;178563320 | chr2:179428049;179428048;179428047 |
| Novex-2 | 18731 | 56416;56417;56418 | chr2:178563322;178563321;178563320 | chr2:179428049;179428048;179428047 |
| 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/A | rs1704369603  |
None | 1.0 | N | 0.628 | 0.47 | 0.422160833541 | gnomAD-4.0.0 | 3.18322E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.55679E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs199929362 |
-0.769 | 1.0 | N | 0.877 | 0.651 | 0.703744203088 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/R | rs199929362 |
-0.769 | 1.0 | N | 0.877 | 0.651 | 0.703744203088 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs199929362 |
-0.769 | 1.0 | N | 0.877 | 0.651 | 0.703744203088 | gnomAD-4.0.0 | 3.09885E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23829E-06 | 0 | 0 |
| G/S | rs199929362 |
-0.924 | 1.0 | D | 0.684 | 0.486 | None | gnomAD-2.1.1 | 4.97277E-04 | None | None | None | None | N | None | 0 | 0 | None | 1.14319E-02 | 1.0305E-04 | None | 3.27E-05 | None | 0 | 1.25445E-04 | 2.81057E-04 |
| G/S | rs199929362 |
-0.924 | 1.0 | D | 0.684 | 0.486 | None | gnomAD-3.1.2 | 2.62981E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 1.03746E-02 | 1.93798E-04 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/S | rs199929362 |
-0.924 | 1.0 | D | 0.684 | 0.486 | None | gnomAD-4.0.0 | 2.47289E-04 | None | None | None | None | N | None | 0 | 0 | None | 1.0744E-02 | 6.69972E-05 | None | 0 | 0 | 4.06876E-05 | 1.09791E-05 | 4.64342E-04 |
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 | 0.3958 | ambiguous | 0.3605 | ambiguous | -0.564 | Destabilizing | 1.0 | D | 0.628 | neutral | N | 0.485112309 | None | None | N |
| G/C | 0.6687 | likely_pathogenic | 0.6243 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.514372286 | None | None | N |
| G/D | 0.9172 | likely_pathogenic | 0.8974 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.502317964 | None | None | N |
| G/E | 0.9314 | likely_pathogenic | 0.9102 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/F | 0.9495 | likely_pathogenic | 0.9362 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/H | 0.9337 | likely_pathogenic | 0.9157 | pathogenic | -1.396 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/I | 0.953 | likely_pathogenic | 0.9348 | pathogenic | 0.135 | Stabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/K | 0.975 | likely_pathogenic | 0.968 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/L | 0.9384 | likely_pathogenic | 0.9208 | pathogenic | 0.135 | Stabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/M | 0.9394 | likely_pathogenic | 0.9247 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/N | 0.8614 | likely_pathogenic | 0.8346 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/P | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -0.054 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| G/Q | 0.9254 | likely_pathogenic | 0.9066 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/R | 0.9353 | likely_pathogenic | 0.9207 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.49479632 | None | None | N |
| G/S | 0.3391 | likely_benign | 0.3169 | benign | -1.238 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | D | 0.525853065 | None | None | N |
| G/T | 0.7797 | likely_pathogenic | 0.737 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| G/V | 0.8973 | likely_pathogenic | 0.8692 | pathogenic | -0.054 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.531209094 | None | None | N |
| G/W | 0.9188 | likely_pathogenic | 0.8926 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/Y | 0.8801 | likely_pathogenic | 0.8515 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | 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.