Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21085 | 63478;63479;63480 | chr2:178588154;178588153;178588152 | chr2:179452881;179452880;179452879 |
| N2AB | 19444 | 58555;58556;58557 | chr2:178588154;178588153;178588152 | chr2:179452881;179452880;179452879 |
| N2A | 18517 | 55774;55775;55776 | chr2:178588154;178588153;178588152 | chr2:179452881;179452880;179452879 |
| N2B | 12020 | 36283;36284;36285 | chr2:178588154;178588153;178588152 | chr2:179452881;179452880;179452879 |
| Novex-1 | 12145 | 36658;36659;36660 | chr2:178588154;178588153;178588152 | chr2:179452881;179452880;179452879 |
| Novex-2 | 12212 | 36859;36860;36861 | chr2:178588154;178588153;178588152 | chr2:179452881;179452880;179452879 |
| 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/G | None | None | 1.0 | D | 0.825 | 0.831 | 0.691340492799 | gnomAD-4.0.0 | 1.20039E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31257E-06 | 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 | 0.9943 | likely_pathogenic | 0.9937 | pathogenic | -2.737 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| W/C | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | -1.249 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.683724397 | None | None | N |
| W/D | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -3.4 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/E | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -3.266 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/F | 0.6983 | likely_pathogenic | 0.6738 | pathogenic | -1.815 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/G | 0.9768 | likely_pathogenic | 0.9734 | pathogenic | -2.991 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.683724397 | None | None | N |
| W/H | 0.9974 | likely_pathogenic | 0.9971 | pathogenic | -2.542 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| W/I | 0.9867 | likely_pathogenic | 0.9853 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.38 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| W/L | 0.9729 | likely_pathogenic | 0.9654 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.64196512 | None | None | N |
| W/M | 0.9928 | likely_pathogenic | 0.9912 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| W/N | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -3.162 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/P | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -2.123 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.885 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/R | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -2.433 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.683724397 | None | None | N |
| W/S | 0.994 | likely_pathogenic | 0.9929 | pathogenic | -3.178 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.683724397 | None | None | N |
| W/T | 0.9951 | likely_pathogenic | 0.9944 | pathogenic | -2.958 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| W/V | 0.9894 | likely_pathogenic | 0.987 | pathogenic | -2.123 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/Y | 0.9614 | likely_pathogenic | 0.9557 | pathogenic | -1.692 | 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.