Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23061 | 69406;69407;69408 | chr2:178577154;178577153;178577152 | chr2:179441881;179441880;179441879 |
| N2AB | 21420 | 64483;64484;64485 | chr2:178577154;178577153;178577152 | chr2:179441881;179441880;179441879 |
| N2A | 20493 | 61702;61703;61704 | chr2:178577154;178577153;178577152 | chr2:179441881;179441880;179441879 |
| N2B | 13996 | 42211;42212;42213 | chr2:178577154;178577153;178577152 | chr2:179441881;179441880;179441879 |
| Novex-1 | 14121 | 42586;42587;42588 | chr2:178577154;178577153;178577152 | chr2:179441881;179441880;179441879 |
| Novex-2 | 14188 | 42787;42788;42789 | chr2:178577154;178577153;178577152 | chr2:179441881;179441880;179441879 |
| 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 | 0.849 | 0.825 | 0.906862694034 | gnomAD-4.0.0 | 2.05337E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69905E-06 | 0 | 0 |
| W/R | None | None | 1.0 | D | 0.906 | 0.909 | 0.928520047526 | gnomAD-4.0.0 | 1.59258E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86051E-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 | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -3.46 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/C | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -2.222 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.692491317 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.573 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.456 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| W/F | 0.7179 | likely_pathogenic | 0.7125 | pathogenic | -2.118 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/G | 0.991 | likely_pathogenic | 0.9913 | pathogenic | -3.71 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.692491317 | None | None | N |
| W/H | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -2.552 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/I | 0.9929 | likely_pathogenic | 0.9932 | pathogenic | -2.497 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.777 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/L | 0.9844 | likely_pathogenic | 0.984 | pathogenic | -2.497 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.675462935 | None | None | N |
| W/M | 0.9962 | likely_pathogenic | 0.9963 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.455 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.85 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.304 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.4 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.692491317 | None | None | N |
| W/S | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -3.669 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.676471956 | None | None | N |
| W/T | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -3.48 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/V | 0.9925 | likely_pathogenic | 0.9927 | pathogenic | -2.85 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| W/Y | 0.9554 | likely_pathogenic | 0.96 | pathogenic | -1.977 | Destabilizing | 1.0 | D | 0.862 | 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.