Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21581 | 64966;64967;64968 | chr2:178584900;178584899;178584898 | chr2:179449627;179449626;179449625 |
| N2AB | 19940 | 60043;60044;60045 | chr2:178584900;178584899;178584898 | chr2:179449627;179449626;179449625 |
| N2A | 19013 | 57262;57263;57264 | chr2:178584900;178584899;178584898 | chr2:179449627;179449626;179449625 |
| N2B | 12516 | 37771;37772;37773 | chr2:178584900;178584899;178584898 | chr2:179449627;179449626;179449625 |
| Novex-1 | 12641 | 38146;38147;38148 | chr2:178584900;178584899;178584898 | chr2:179449627;179449626;179449625 |
| Novex-2 | 12708 | 38347;38348;38349 | chr2:178584900;178584899;178584898 | chr2:179449627;179449626;179449625 |
| 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/R | rs1455212617  |
-2.244 | 1.0 | D | 0.898 | 0.781 | 0.915394152485 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/R | rs1455212617 |
-2.244 | 1.0 | D | 0.898 | 0.781 | 0.915394152485 | gnomAD-4.0.0 | 1.11459E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71997E-06 | 7.16538E-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 | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -3.041 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/C | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -1.57 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.678715035 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.607 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.475 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/F | 0.7927 | likely_pathogenic | 0.7882 | pathogenic | -2.086 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/G | 0.9905 | likely_pathogenic | 0.9914 | pathogenic | -3.295 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.678715035 | None | None | N |
| W/H | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -2.788 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/I | 0.9962 | likely_pathogenic | 0.9967 | pathogenic | -2.067 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.639 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/L | 0.9895 | likely_pathogenic | 0.9909 | pathogenic | -2.067 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.661484848 | None | None | N |
| W/M | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.41 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.424 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.149 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.609 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.678715035 | None | None | N |
| W/S | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -3.452 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.662695674 | None | None | N |
| W/T | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -3.234 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/V | 0.9961 | likely_pathogenic | 0.9967 | pathogenic | -2.424 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/Y | 0.9652 | likely_pathogenic | 0.9692 | pathogenic | -1.977 | Destabilizing | 1.0 | D | 0.854 | 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.