Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8643 | 26152;26153;26154 | chr2:178715259;178715258;178715257 | chr2:179579986;179579985;179579984 |
| N2AB | 8326 | 25201;25202;25203 | chr2:178715259;178715258;178715257 | chr2:179579986;179579985;179579984 |
| N2A | 7399 | 22420;22421;22422 | chr2:178715259;178715258;178715257 | chr2:179579986;179579985;179579984 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs746681999  |
None | 1.0 | D | 0.846 | 0.791 | 0.844449701782 | gnomAD-4.0.0 | 6.90654E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04084E-07 | 0 | 0 |
| P/R | rs746681999 |
-0.852 | 1.0 | D | 0.872 | 0.779 | 0.844449701782 | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.75E-05 | 0 | 0 |
| P/R | rs746681999 |
-0.852 | 1.0 | D | 0.872 | 0.779 | 0.844449701782 | gnomAD-4.0.0 | 1.72663E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88416E-05 | 0 | 2.1698E-05 | 0 | 0 |
| P/S | rs754532440 |
-1.842 | 1.0 | D | 0.895 | 0.779 | 0.658399546983 | gnomAD-2.1.1 | 8.42E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.18E-05 | None | 0 | 0 | 0 |
| P/S | rs754532440 |
-1.842 | 1.0 | D | 0.895 | 0.779 | 0.658399546983 | gnomAD-4.0.0 | 1.79559E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.05382E-05 | None | 0 | 5.50257E-04 | 1.80813E-06 | 2.03082E-04 | 3.35255E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7328 | likely_pathogenic | 0.8312 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.627228074 | None | None | N |
| P/C | 0.9837 | likely_pathogenic | 0.9911 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.425 | Destabilizing | 0.999 | D | 0.893 | deleterious | None | None | None | None | N |
| P/E | 0.9969 | likely_pathogenic | 0.9978 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/F | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/G | 0.9877 | likely_pathogenic | 0.9907 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/H | 0.9954 | likely_pathogenic | 0.9967 | pathogenic | -1.692 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.644085012 | None | None | N |
| P/I | 0.9512 | likely_pathogenic | 0.968 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/K | 0.9976 | likely_pathogenic | 0.998 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/L | 0.901 | likely_pathogenic | 0.9336 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.618345097 | None | None | N |
| P/M | 0.9851 | likely_pathogenic | 0.9909 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/N | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/Q | 0.9927 | likely_pathogenic | 0.9951 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/R | 0.9909 | likely_pathogenic | 0.992 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.644085013 | None | None | N |
| P/S | 0.9714 | likely_pathogenic | 0.9838 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.643681404 | None | None | N |
| P/T | 0.954 | likely_pathogenic | 0.9763 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.643883208 | None | None | N |
| P/V | 0.8783 | likely_pathogenic | 0.9156 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/Y | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.87 | 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.