Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30842 | 92749;92750;92751 | chr2:178549102;178549101;178549100 | chr2:179413829;179413828;179413827 |
| N2AB | 29201 | 87826;87827;87828 | chr2:178549102;178549101;178549100 | chr2:179413829;179413828;179413827 |
| N2A | 28274 | 85045;85046;85047 | chr2:178549102;178549101;178549100 | chr2:179413829;179413828;179413827 |
| N2B | 21777 | 65554;65555;65556 | chr2:178549102;178549101;178549100 | chr2:179413829;179413828;179413827 |
| Novex-1 | 21902 | 65929;65930;65931 | chr2:178549102;178549101;178549100 | chr2:179413829;179413828;179413827 |
| Novex-2 | 21969 | 66130;66131;66132 | chr2:178549102;178549101;178549100 | chr2:179413829;179413828;179413827 |
| 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/C | None | None | 1.0 | D | 0.857 | 0.884 | 0.902338567141 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.9947 | likely_pathogenic | 0.9946 | pathogenic | -3.514 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/C | 0.9973 | likely_pathogenic | 0.9975 | pathogenic | -1.863 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.70183324 | None | None | N |
| W/D | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.786 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.668 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| W/F | 0.7046 | likely_pathogenic | 0.7112 | pathogenic | -2.259 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| W/G | 0.9704 | likely_pathogenic | 0.9685 | pathogenic | -3.751 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.70183324 | None | None | N |
| W/H | 0.9975 | likely_pathogenic | 0.9975 | pathogenic | -2.752 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/I | 0.9873 | likely_pathogenic | 0.9882 | pathogenic | -2.587 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.746 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/L | 0.9713 | likely_pathogenic | 0.9759 | pathogenic | -2.587 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.701631436 | None | None | N |
| W/M | 0.9923 | likely_pathogenic | 0.9927 | pathogenic | -1.979 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/N | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -3.439 | Highly Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.928 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.289 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.423 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.70183324 | None | None | N |
| W/S | 0.9951 | likely_pathogenic | 0.9952 | pathogenic | -3.568 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.70183324 | None | None | N |
| W/T | 0.9973 | likely_pathogenic | 0.997 | pathogenic | -3.375 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/V | 0.9896 | likely_pathogenic | 0.9895 | pathogenic | -2.928 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| W/Y | 0.9215 | likely_pathogenic | 0.9239 | pathogenic | -2.097 | Highly Destabilizing | 1.0 | D | 0.859 | 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.