Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22869 | 68830;68831;68832 | chr2:178577821;178577820;178577819 | chr2:179442548;179442547;179442546 |
| N2AB | 21228 | 63907;63908;63909 | chr2:178577821;178577820;178577819 | chr2:179442548;179442547;179442546 |
| N2A | 20301 | 61126;61127;61128 | chr2:178577821;178577820;178577819 | chr2:179442548;179442547;179442546 |
| N2B | 13804 | 41635;41636;41637 | chr2:178577821;178577820;178577819 | chr2:179442548;179442547;179442546 |
| Novex-1 | 13929 | 42010;42011;42012 | chr2:178577821;178577820;178577819 | chr2:179442548;179442547;179442546 |
| Novex-2 | 13996 | 42211;42212;42213 | chr2:178577821;178577820;178577819 | chr2:179442548;179442547;179442546 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | D | 0.873 | 0.714 | 0.433823933641 | gnomAD-4.0.0 | 1.20046E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs876658078  |
-0.541 | 1.0 | N | 0.854 | 0.657 | 0.608896402506 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| G/R | rs876658078 |
-0.541 | 1.0 | N | 0.854 | 0.657 | 0.608896402506 | gnomAD-4.0.0 | 1.37057E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80091E-06 | 0 | 0 |
| G/S | rs876658078 |
-0.849 | 1.0 | N | 0.807 | 0.662 | 0.383256108077 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 8.28E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.89E-06 | 0 |
| G/S | rs876658078 |
-0.849 | 1.0 | N | 0.807 | 0.662 | 0.383256108077 | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | N | None | 2.65547E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs876658078 |
-0.849 | 1.0 | N | 0.807 | 0.662 | 0.383256108077 | gnomAD-4.0.0 | 1.55157E-05 | None | None | None | None | N | None | 2.40577E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24259E-06 | 1.10244E-05 | 1.60344E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9487 | likely_pathogenic | 0.9324 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | N | 0.513364193 | None | None | N |
| G/C | 0.9894 | likely_pathogenic | 0.9864 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.548865141 | None | None | N |
| G/D | 0.9972 | likely_pathogenic | 0.997 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.530935015 | None | None | N |
| G/E | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/F | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/H | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/I | 0.9985 | likely_pathogenic | 0.9978 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/K | 0.9974 | likely_pathogenic | 0.9973 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/L | 0.9982 | likely_pathogenic | 0.9973 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/M | 0.999 | likely_pathogenic | 0.9985 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/N | 0.9975 | likely_pathogenic | 0.9967 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/Q | 0.9977 | likely_pathogenic | 0.9973 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/R | 0.9893 | likely_pathogenic | 0.9897 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.854 | deleterious | N | 0.508666931 | None | None | N |
| G/S | 0.9545 | likely_pathogenic | 0.9412 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.519832199 | None | None | N |
| G/T | 0.9945 | likely_pathogenic | 0.9922 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/V | 0.9968 | likely_pathogenic | 0.9955 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.523670541 | None | None | N |
| G/W | 0.9969 | likely_pathogenic | 0.9965 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/Y | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.8 | 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.