Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30272 | 91039;91040;91041 | chr2:178552086;178552085;178552084 | chr2:179416813;179416812;179416811 |
| N2AB | 28631 | 86116;86117;86118 | chr2:178552086;178552085;178552084 | chr2:179416813;179416812;179416811 |
| N2A | 27704 | 83335;83336;83337 | chr2:178552086;178552085;178552084 | chr2:179416813;179416812;179416811 |
| N2B | 21207 | 63844;63845;63846 | chr2:178552086;178552085;178552084 | chr2:179416813;179416812;179416811 |
| Novex-1 | 21332 | 64219;64220;64221 | chr2:178552086;178552085;178552084 | chr2:179416813;179416812;179416811 |
| Novex-2 | 21399 | 64420;64421;64422 | chr2:178552086;178552085;178552084 | chr2:179416813;179416812;179416811 |
| 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/L | None | None | 1.0 | D | 0.68 | 0.453 | 0.783721834047 | gnomAD-4.0.0 | 1.59147E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43336E-05 | 0 |
| W/R | rs777716014  |
-0.957 | 1.0 | D | 0.761 | 0.504 | 0.751342362238 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/R | rs777716014 |
-0.957 | 1.0 | D | 0.761 | 0.504 | 0.751342362238 | gnomAD-4.0.0 | 1.36848E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.3129E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9978 | likely_pathogenic | 0.9967 | pathogenic | -3.234 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| W/C | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | D | 0.524338423 | None | None | N |
| W/D | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/E | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -1.905 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| W/F | 0.79 | likely_pathogenic | 0.8036 | pathogenic | -2.092 | Highly Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| W/G | 0.9869 | likely_pathogenic | 0.9816 | pathogenic | -3.424 | Highly Destabilizing | 1.0 | D | 0.68 | prob.neutral | D | 0.523577955 | None | None | N |
| W/H | 0.9959 | likely_pathogenic | 0.9953 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| W/I | 0.9963 | likely_pathogenic | 0.9959 | pathogenic | -2.538 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| W/L | 0.9852 | likely_pathogenic | 0.9837 | pathogenic | -2.538 | Highly Destabilizing | 1.0 | D | 0.68 | prob.neutral | D | 0.528297988 | None | None | N |
| W/M | 0.9968 | likely_pathogenic | 0.9964 | pathogenic | -1.922 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| W/N | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -1.934 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/P | 0.998 | likely_pathogenic | 0.997 | pathogenic | -2.787 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.009 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.534845355 | None | None | N |
| W/S | 0.9936 | likely_pathogenic | 0.9913 | pathogenic | -2.391 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.525780001 | None | None | N |
| W/T | 0.9971 | likely_pathogenic | 0.9958 | pathogenic | -2.286 | Highly Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| W/V | 0.9963 | likely_pathogenic | 0.9955 | pathogenic | -2.787 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| W/Y | 0.9261 | likely_pathogenic | 0.9246 | pathogenic | -1.882 | Destabilizing | 1.0 | D | 0.604 | 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.