Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31249 | 93970;93971;93972 | chr2:178547881;178547880;178547879 | chr2:179412608;179412607;179412606 |
| N2AB | 29608 | 89047;89048;89049 | chr2:178547881;178547880;178547879 | chr2:179412608;179412607;179412606 |
| N2A | 28681 | 86266;86267;86268 | chr2:178547881;178547880;178547879 | chr2:179412608;179412607;179412606 |
| N2B | 22184 | 66775;66776;66777 | chr2:178547881;178547880;178547879 | chr2:179412608;179412607;179412606 |
| Novex-1 | 22309 | 67150;67151;67152 | chr2:178547881;178547880;178547879 | chr2:179412608;179412607;179412606 |
| Novex-2 | 22376 | 67351;67352;67353 | chr2:178547881;178547880;178547879 | chr2:179412608;179412607;179412606 |
| 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 | 0.8 | 0.879 | 0.723653669168 | 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 |
| W/L | None | None | 1.0 | D | 0.818 | 0.843 | 0.905828360724 | gnomAD-4.0.0 | 6.84186E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99434E-07 | 0 | 0 |
| W/R | None | None | 1.0 | D | 0.865 | 0.94 | 0.946935086327 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | 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 | 0.9901 | likely_pathogenic | 0.9941 | pathogenic | -2.671 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/C | 0.9933 | likely_pathogenic | 0.9955 | pathogenic | -1.882 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.680313316 | None | None | N |
| W/D | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -2.964 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/E | 0.9987 | likely_pathogenic | 0.9993 | pathogenic | -2.822 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| W/F | 0.6995 | likely_pathogenic | 0.7268 | pathogenic | -1.639 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/G | 0.968 | likely_pathogenic | 0.9825 | pathogenic | -2.939 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.680111512 | None | None | N |
| W/H | 0.9959 | likely_pathogenic | 0.997 | pathogenic | -2.201 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/I | 0.9591 | likely_pathogenic | 0.9717 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/K | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -2.525 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/L | 0.8897 | likely_pathogenic | 0.919 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.680111512 | None | None | N |
| W/M | 0.9785 | likely_pathogenic | 0.9842 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| W/N | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -3.283 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/P | 0.9972 | likely_pathogenic | 0.9985 | pathogenic | -2.033 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/Q | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -2.977 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| W/R | 0.9983 | likely_pathogenic | 0.999 | pathogenic | -2.537 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.680313316 | None | None | N |
| W/S | 0.9895 | likely_pathogenic | 0.994 | pathogenic | -3.457 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.680313316 | None | None | N |
| W/T | 0.9943 | likely_pathogenic | 0.9965 | pathogenic | -3.238 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| W/V | 0.9626 | likely_pathogenic | 0.9738 | pathogenic | -2.033 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/Y | 0.917 | likely_pathogenic | 0.9319 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.794 | 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.