Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20193 | 60802;60803;60804 | chr2:178591148;178591147;178591146 | chr2:179455875;179455874;179455873 |
| N2AB | 18552 | 55879;55880;55881 | chr2:178591148;178591147;178591146 | chr2:179455875;179455874;179455873 |
| N2A | 17625 | 53098;53099;53100 | chr2:178591148;178591147;178591146 | chr2:179455875;179455874;179455873 |
| N2B | 11128 | 33607;33608;33609 | chr2:178591148;178591147;178591146 | chr2:179455875;179455874;179455873 |
| Novex-1 | 11253 | 33982;33983;33984 | chr2:178591148;178591147;178591146 | chr2:179455875;179455874;179455873 |
| Novex-2 | 11320 | 34183;34184;34185 | chr2:178591148;178591147;178591146 | chr2:179455875;179455874;179455873 |
| 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 | None | None | 1.0 | D | 0.904 | 0.88 | 0.920677696357 | 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 | 0.9979 | likely_pathogenic | 0.9991 | pathogenic | -3.265 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| W/C | 0.9976 | likely_pathogenic | 0.9989 | pathogenic | -1.975 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.664088662 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -3.853 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9999 | pathogenic | -3.738 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/F | 0.7549 | likely_pathogenic | 0.7886 | pathogenic | -2.127 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/G | 0.9876 | likely_pathogenic | 0.9948 | pathogenic | -3.504 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.664088662 | None | None | N |
| W/H | 0.9967 | likely_pathogenic | 0.9982 | pathogenic | -2.629 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/I | 0.9926 | likely_pathogenic | 0.9961 | pathogenic | -2.338 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.871 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| W/L | 0.9791 | likely_pathogenic | 0.9891 | pathogenic | -2.338 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.662877836 | None | None | N |
| W/M | 0.9969 | likely_pathogenic | 0.9985 | pathogenic | -1.819 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -3.63 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/P | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -2.678 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -3.444 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/R | 0.999 | likely_pathogenic | 0.9996 | pathogenic | -2.627 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.664088662 | None | None | N |
| W/S | 0.9954 | likely_pathogenic | 0.9983 | pathogenic | -3.703 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.648069301 | None | None | N |
| W/T | 0.9982 | likely_pathogenic | 0.9993 | pathogenic | -3.512 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/V | 0.9936 | likely_pathogenic | 0.997 | pathogenic | -2.678 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/Y | 0.9501 | likely_pathogenic | 0.9587 | pathogenic | -2.021 | Highly Destabilizing | 1.0 | D | 0.806 | 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.