Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2652 | 8179;8180;8181 | chr2:178771373;178771372;178771371 | chr2:179636100;179636099;179636098 |
| N2AB | 2652 | 8179;8180;8181 | chr2:178771373;178771372;178771371 | chr2:179636100;179636099;179636098 |
| N2A | 2652 | 8179;8180;8181 | chr2:178771373;178771372;178771371 | chr2:179636100;179636099;179636098 |
| N2B | 2606 | 8041;8042;8043 | chr2:178771373;178771372;178771371 | chr2:179636100;179636099;179636098 |
| Novex-1 | 2606 | 8041;8042;8043 | chr2:178771373;178771372;178771371 | chr2:179636100;179636099;179636098 |
| Novex-2 | 2606 | 8041;8042;8043 | chr2:178771373;178771372;178771371 | chr2:179636100;179636099;179636098 |
| Novex-3 | 2652 | 8179;8180;8181 | chr2:178771373;178771372;178771371 | chr2:179636100;179636099;179636098 |
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 | None | None | 1.0 | D | 0.82 | 0.822 | 0.963012162132 | gnomAD-4.0.0 | 1.59066E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 | 0.9946 | likely_pathogenic | 0.9917 | pathogenic | -2.416 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/C | 0.9977 | likely_pathogenic | 0.9966 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.73721964 | None | None | N |
| W/D | 0.9983 | likely_pathogenic | 0.9966 | pathogenic | -2.911 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/E | 0.9987 | likely_pathogenic | 0.9974 | pathogenic | -2.769 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/F | 0.5998 | likely_pathogenic | 0.5442 | ambiguous | -1.434 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/G | 0.9784 | likely_pathogenic | 0.9669 | pathogenic | -2.675 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.737253532 | None | None | N |
| W/H | 0.9966 | likely_pathogenic | 0.9942 | pathogenic | -2.059 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/I | 0.9508 | likely_pathogenic | 0.9364 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/K | 0.9995 | likely_pathogenic | 0.9989 | pathogenic | -1.972 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/L | 0.9232 | likely_pathogenic | 0.897 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.737253532 | None | None | N |
| W/M | 0.9816 | likely_pathogenic | 0.9762 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| W/N | 0.998 | likely_pathogenic | 0.9963 | pathogenic | -2.737 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/P | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -1.798 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -2.455 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9985 | pathogenic | -2.064 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.73721964 | None | None | N |
| W/S | 0.9943 | likely_pathogenic | 0.9904 | pathogenic | -2.819 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.73721964 | None | None | N |
| W/T | 0.994 | likely_pathogenic | 0.9906 | pathogenic | -2.595 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/V | 0.9742 | likely_pathogenic | 0.9644 | pathogenic | -1.798 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/Y | 0.8864 | likely_pathogenic | 0.8506 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.789 | 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.