Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30306 | 91141;91142;91143 | chr2:178551984;178551983;178551982 | chr2:179416711;179416710;179416709 |
| N2AB | 28665 | 86218;86219;86220 | chr2:178551984;178551983;178551982 | chr2:179416711;179416710;179416709 |
| N2A | 27738 | 83437;83438;83439 | chr2:178551984;178551983;178551982 | chr2:179416711;179416710;179416709 |
| N2B | 21241 | 63946;63947;63948 | chr2:178551984;178551983;178551982 | chr2:179416711;179416710;179416709 |
| Novex-1 | 21366 | 64321;64322;64323 | chr2:178551984;178551983;178551982 | chr2:179416711;179416710;179416709 |
| Novex-2 | 21433 | 64522;64523;64524 | chr2:178551984;178551983;178551982 | chr2:179416711;179416710;179416709 |
| 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/R | rs267599029  |
-0.415 | 1.0 | D | 0.921 | 0.744 | 0.872581749373 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.56E-05 | None | 0 | 3.55E-05 | 0 |
| G/R | rs267599029 |
-0.415 | 1.0 | D | 0.921 | 0.744 | 0.872581749373 | gnomAD-4.0.0 | 6.85163E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73671E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.865 | likely_pathogenic | 0.9136 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.57768577 | None | None | N |
| G/C | 0.9641 | likely_pathogenic | 0.9748 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/D | 0.9821 | likely_pathogenic | 0.9876 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| G/E | 0.9897 | likely_pathogenic | 0.9933 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.57768577 | None | None | N |
| G/F | 0.9945 | likely_pathogenic | 0.9963 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| G/H | 0.9924 | likely_pathogenic | 0.9957 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/I | 0.9947 | likely_pathogenic | 0.9961 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/K | 0.9943 | likely_pathogenic | 0.9963 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| G/L | 0.9922 | likely_pathogenic | 0.9951 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/M | 0.9955 | likely_pathogenic | 0.9975 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/N | 0.984 | likely_pathogenic | 0.9909 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/P | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| G/Q | 0.9854 | likely_pathogenic | 0.9917 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| G/R | 0.9767 | likely_pathogenic | 0.9845 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.559835004 | None | None | N |
| G/S | 0.8006 | likely_pathogenic | 0.8676 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/T | 0.9744 | likely_pathogenic | 0.9832 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| G/V | 0.9886 | likely_pathogenic | 0.9917 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.5666718589999999 | None | None | N |
| G/W | 0.9911 | likely_pathogenic | 0.993 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/Y | 0.9921 | likely_pathogenic | 0.9951 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.896 | 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.