Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25938 | 78037;78038;78039 | chr2:178568320;178568319;178568318 | chr2:179433047;179433046;179433045 |
| N2AB | 24297 | 73114;73115;73116 | chr2:178568320;178568319;178568318 | chr2:179433047;179433046;179433045 |
| N2A | 23370 | 70333;70334;70335 | chr2:178568320;178568319;178568318 | chr2:179433047;179433046;179433045 |
| N2B | 16873 | 50842;50843;50844 | chr2:178568320;178568319;178568318 | chr2:179433047;179433046;179433045 |
| Novex-1 | 16998 | 51217;51218;51219 | chr2:178568320;178568319;178568318 | chr2:179433047;179433046;179433045 |
| Novex-2 | 17065 | 51418;51419;51420 | chr2:178568320;178568319;178568318 | chr2:179433047;179433046;179433045 |
| 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 | rs1052501136  |
-1.032 | 1.0 | D | 0.761 | 0.555 | 0.784910033796 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| W/R | rs1052501136 |
-1.032 | 1.0 | D | 0.761 | 0.555 | 0.784910033796 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/R | rs1052501136 |
-1.032 | 1.0 | D | 0.761 | 0.555 | 0.784910033796 | gnomAD-4.0.0 | 6.84346E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15942E-05 | 0 |
| W/S | rs186681106 |
-2.074 | 1.0 | D | 0.766 | 0.53 | None | gnomAD-2.1.1 | 6.46692E-04 | None | None | None | None | N | None | 3.22527E-03 | 1.10444E-03 | None | 1.7398E-03 | 0 | None | 0 | None | 4E-05 | 3.04859E-04 | 8.43882E-04 |
| W/S | rs186681106 |
-2.074 | 1.0 | D | 0.766 | 0.53 | None | gnomAD-3.1.2 | 1.20991E-03 | None | None | None | None | N | None | 3.18702E-03 | 1.50741E-03 | 0 | 1.72811E-03 | 0 | None | 0 | 0 | 3.08805E-04 | 0 | 9.56023E-04 |
| W/S | rs186681106 |
-2.074 | 1.0 | D | 0.766 | 0.53 | None | 1000 genomes | 1.59744E-03 | None | None | None | None | N | None | 3E-03 | 4.3E-03 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| W/S | rs186681106 |
-2.074 | 1.0 | D | 0.766 | 0.53 | None | gnomAD-4.0.0 | 3.59481E-04 | None | None | None | None | N | None | 3.0139E-03 | 1.08377E-03 | None | 1.58816E-03 | 0 | None | 0 | 1.321E-03 | 1.63611E-04 | 0 | 6.56441E-04 |
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 | 0.996 | likely_pathogenic | 0.9981 | pathogenic | -3.388 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| W/C | 0.9976 | likely_pathogenic | 0.9988 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.501553815 | None | None | N |
| W/D | 0.9992 | likely_pathogenic | 0.9997 | pathogenic | -2.36 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9998 | pathogenic | -2.301 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| W/F | 0.8258 | likely_pathogenic | 0.865 | pathogenic | -2.159 | Highly Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| W/G | 0.9845 | likely_pathogenic | 0.9927 | pathogenic | -3.566 | Highly Destabilizing | 1.0 | D | 0.66 | neutral | D | 0.531810843 | None | None | N |
| W/H | 0.9964 | likely_pathogenic | 0.9979 | pathogenic | -1.821 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| W/I | 0.9961 | likely_pathogenic | 0.998 | pathogenic | -2.716 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -1.769 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| W/L | 0.9845 | likely_pathogenic | 0.992 | pathogenic | -2.716 | Highly Destabilizing | 1.0 | D | 0.66 | neutral | D | 0.522656583 | None | None | N |
| W/M | 0.9946 | likely_pathogenic | 0.9973 | pathogenic | -2.074 | Highly Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| W/N | 0.9985 | likely_pathogenic | 0.9994 | pathogenic | -2.059 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| W/P | 0.9984 | likely_pathogenic | 0.9991 | pathogenic | -2.96 | Highly Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -2.155 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/R | 0.9991 | likely_pathogenic | 0.9996 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.550422077 | None | None | N |
| W/S | 0.9893 | likely_pathogenic | 0.9952 | pathogenic | -2.469 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.525516965 | None | None | N |
| W/T | 0.9947 | likely_pathogenic | 0.9977 | pathogenic | -2.363 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/V | 0.9953 | likely_pathogenic | 0.9976 | pathogenic | -2.96 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| W/Y | 0.9429 | likely_pathogenic | 0.9563 | pathogenic | -1.92 | Destabilizing | 1.0 | D | 0.603 | neutral | 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.