Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31527 | 94804;94805;94806 | chr2:178546849;178546848;178546847 | chr2:179411576;179411575;179411574 |
| N2AB | 29886 | 89881;89882;89883 | chr2:178546849;178546848;178546847 | chr2:179411576;179411575;179411574 |
| N2A | 28959 | 87100;87101;87102 | chr2:178546849;178546848;178546847 | chr2:179411576;179411575;179411574 |
| N2B | 22462 | 67609;67610;67611 | chr2:178546849;178546848;178546847 | chr2:179411576;179411575;179411574 |
| Novex-1 | 22587 | 67984;67985;67986 | chr2:178546849;178546848;178546847 | chr2:179411576;179411575;179411574 |
| Novex-2 | 22654 | 68185;68186;68187 | chr2:178546849;178546848;178546847 | chr2:179411576;179411575;179411574 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/L | rs758317232  |
-2.654 | 1.0 | D | 0.855 | 0.711 | 0.940224394109 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -3.443 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| W/C | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -1.836 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.683822657 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.843 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.724 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/F | 0.8289 | likely_pathogenic | 0.8044 | pathogenic | -2.242 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/G | 0.9952 | likely_pathogenic | 0.9934 | pathogenic | -3.682 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.683822657 | None | None | N |
| W/H | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -2.808 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/I | 0.9984 | likely_pathogenic | 0.9971 | pathogenic | -2.507 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| W/K | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -2.793 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/L | 0.9931 | likely_pathogenic | 0.9885 | pathogenic | -2.507 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.682611832 | None | None | N |
| W/M | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -1.899 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.513 | Highly Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| W/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.852 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.339 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.519 | Highly Destabilizing | 1.0 | D | 0.926 | deleterious | D | 0.683822657 | None | None | N |
| W/S | 0.999 | likely_pathogenic | 0.9981 | pathogenic | -3.606 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.667803296 | None | None | N |
| W/T | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -3.409 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/V | 0.9984 | likely_pathogenic | 0.9972 | pathogenic | -2.852 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/Y | 0.9812 | likely_pathogenic | 0.9743 | pathogenic | -2.115 | Highly Destabilizing | 1.0 | D | 0.851 | 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.