Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17545 | 52858;52859;52860 | chr2:178608250;178608249;178608248 | chr2:179472977;179472976;179472975 |
| N2AB | 15904 | 47935;47936;47937 | chr2:178608250;178608249;178608248 | chr2:179472977;179472976;179472975 |
| N2A | 14977 | 45154;45155;45156 | chr2:178608250;178608249;178608248 | chr2:179472977;179472976;179472975 |
| N2B | 8480 | 25663;25664;25665 | chr2:178608250;178608249;178608248 | chr2:179472977;179472976;179472975 |
| Novex-1 | 8605 | 26038;26039;26040 | chr2:178608250;178608249;178608248 | chr2:179472977;179472976;179472975 |
| Novex-2 | 8672 | 26239;26240;26241 | chr2:178608250;178608249;178608248 | chr2:179472977;179472976;179472975 |
| 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/R | rs1444767974  |
-1.36 | 0.997 | N | 0.863 | 0.375 | 0.650482972218 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/R | rs1444767974 |
-1.36 | 0.997 | N | 0.863 | 0.375 | 0.650482972218 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | rs1444767974 |
-1.36 | 0.997 | N | 0.863 | 0.375 | 0.650482972218 | gnomAD-4.0.0 | 1.86349E-06 | None | None | None | None | N | None | 1.33754E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48878E-07 | 1.10571E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4725 | ambiguous | 0.5201 | ambiguous | -1.479 | Destabilizing | 0.271 | N | 0.333 | neutral | None | None | None | None | N |
| C/D | 0.9902 | likely_pathogenic | 0.9907 | pathogenic | -1.712 | Destabilizing | 0.998 | D | 0.851 | deleterious | None | None | None | None | N |
| C/E | 0.9901 | likely_pathogenic | 0.9912 | pathogenic | -1.467 | Destabilizing | 0.998 | D | 0.846 | deleterious | None | None | None | None | N |
| C/F | 0.6562 | likely_pathogenic | 0.6866 | pathogenic | -0.853 | Destabilizing | 0.999 | D | 0.821 | deleterious | N | 0.46683926 | None | None | N |
| C/G | 0.511 | ambiguous | 0.5317 | ambiguous | -1.812 | Destabilizing | 0.98 | D | 0.805 | deleterious | N | 0.467138823 | None | None | N |
| C/H | 0.929 | likely_pathogenic | 0.9381 | pathogenic | -2.022 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| C/I | 0.8776 | likely_pathogenic | 0.9067 | pathogenic | -0.57 | Destabilizing | 0.998 | D | 0.815 | deleterious | None | None | None | None | N |
| C/K | 0.9865 | likely_pathogenic | 0.989 | pathogenic | -1.188 | Destabilizing | 0.998 | D | 0.825 | deleterious | None | None | None | None | N |
| C/L | 0.8145 | likely_pathogenic | 0.849 | pathogenic | -0.57 | Destabilizing | 0.985 | D | 0.769 | deleterious | None | None | None | None | N |
| C/M | 0.8405 | likely_pathogenic | 0.8663 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| C/N | 0.9199 | likely_pathogenic | 0.9345 | pathogenic | -1.815 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| C/P | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -0.853 | Destabilizing | 0.998 | D | 0.855 | deleterious | None | None | None | None | N |
| C/Q | 0.9294 | likely_pathogenic | 0.943 | pathogenic | -1.299 | Destabilizing | 0.999 | D | 0.872 | deleterious | None | None | None | None | N |
| C/R | 0.899 | likely_pathogenic | 0.9168 | pathogenic | -1.648 | Destabilizing | 0.997 | D | 0.863 | deleterious | N | 0.422104261 | None | None | N |
| C/S | 0.4892 | ambiguous | 0.5335 | ambiguous | -2.061 | Highly Destabilizing | 0.961 | D | 0.775 | deleterious | N | 0.442250247 | None | None | N |
| C/T | 0.7916 | likely_pathogenic | 0.8271 | pathogenic | -1.652 | Destabilizing | 0.985 | D | 0.799 | deleterious | None | None | None | None | N |
| C/V | 0.7653 | likely_pathogenic | 0.7991 | pathogenic | -0.853 | Destabilizing | 0.985 | D | 0.779 | deleterious | None | None | None | None | N |
| C/W | 0.9432 | likely_pathogenic | 0.9438 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.782 | deleterious | N | 0.485750057 | None | None | N |
| C/Y | 0.8119 | likely_pathogenic | 0.8257 | pathogenic | -1.101 | Destabilizing | 0.999 | D | 0.828 | deleterious | N | 0.468031339 | 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.