Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35911 | 107956;107957;107958 | chr2:178527257;178527256;178527255 | chr2:179391984;179391983;179391982 |
| N2AB | 34270 | 103033;103034;103035 | chr2:178527257;178527256;178527255 | chr2:179391984;179391983;179391982 |
| N2A | 33343 | 100252;100253;100254 | chr2:178527257;178527256;178527255 | chr2:179391984;179391983;179391982 |
| N2B | 26846 | 80761;80762;80763 | chr2:178527257;178527256;178527255 | chr2:179391984;179391983;179391982 |
| Novex-1 | 26971 | 81136;81137;81138 | chr2:178527257;178527256;178527255 | chr2:179391984;179391983;179391982 |
| Novex-2 | 27038 | 81337;81338;81339 | chr2:178527257;178527256;178527255 | chr2:179391984;179391983;179391982 |
| 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/V | rs1194972445  |
None | 0.998 | D | 0.841 | 0.842 | 0.936624429266 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.442(OBSL1) -0.312(OBSCN) | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| G/V | rs1194972445 |
None | 0.998 | D | 0.841 | 0.842 | 0.936624429266 | gnomAD-4.0.0 | 6.57358E-06 | None | None | None | -0.442(OBSL1) -0.312(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 9.42152E-05 | 0 | 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 | 0.6297 | likely_pathogenic | 0.7463 | pathogenic | -0.426 | Destabilizing | 0.984 | D | 0.698 | prob.neutral | D | 0.621272156 | None | -0.378(OBSL1) -0.288(OBSCN) | N |
| G/C | 0.7626 | likely_pathogenic | 0.8408 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.631396319 | None | -0.16(OBSL1) 0.053(OBSCN) | N |
| G/D | 0.3953 | ambiguous | 0.5019 | ambiguous | -0.835 | Destabilizing | 0.315 | N | 0.559 | neutral | D | 0.582279213 | None | -0.563(OBSL1) -0.216(OBSCN) | N |
| G/E | 0.4569 | ambiguous | 0.5983 | pathogenic | -0.991 | Destabilizing | 0.993 | D | 0.839 | deleterious | None | None | None | -0.681(OBSL1) -0.318(OBSCN) | N |
| G/F | 0.969 | likely_pathogenic | 0.9805 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | 0.223(OBSL1) 0.386(OBSCN) | N |
| G/H | 0.7861 | likely_pathogenic | 0.8552 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | 0.334(OBSL1) 0.565(OBSCN) | N |
| G/I | 0.9679 | likely_pathogenic | 0.9828 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | -0.482(OBSL1) -0.332(OBSCN) | N |
| G/K | 0.7338 | likely_pathogenic | 0.7892 | pathogenic | -1.049 | Destabilizing | 0.997 | D | 0.85 | deleterious | None | None | None | -0.661(OBSL1) -0.387(OBSCN) | N |
| G/L | 0.9435 | likely_pathogenic | 0.9649 | pathogenic | -0.484 | Destabilizing | 0.998 | D | 0.835 | deleterious | None | None | None | -0.482(OBSL1) -0.332(OBSCN) | N |
| G/M | 0.9456 | likely_pathogenic | 0.9672 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | -0.2(OBSL1) -0.016(OBSCN) | N |
| G/N | 0.5176 | ambiguous | 0.6311 | pathogenic | -0.664 | Destabilizing | 0.993 | D | 0.829 | deleterious | None | None | None | -0.461(OBSL1) -0.267(OBSCN) | N |
| G/P | 0.9959 | likely_pathogenic | 0.9977 | pathogenic | -0.429 | Destabilizing | 0.998 | D | 0.849 | deleterious | None | None | None | -0.442(OBSL1) -0.312(OBSCN) | N |
| G/Q | 0.6469 | likely_pathogenic | 0.7446 | pathogenic | -0.972 | Destabilizing | 0.997 | D | 0.853 | deleterious | None | None | None | -0.432(OBSL1) -0.207(OBSCN) | N |
| G/R | 0.6372 | likely_pathogenic | 0.7069 | pathogenic | -0.544 | Destabilizing | 0.998 | D | 0.858 | deleterious | D | 0.609633563 | None | -0.906(OBSL1) -0.635(OBSCN) | N |
| G/S | 0.3245 | likely_benign | 0.4272 | ambiguous | -0.806 | Destabilizing | 0.991 | D | 0.825 | deleterious | D | 0.58903163 | None | -0.151(OBSL1) -0.028(OBSCN) | N |
| G/T | 0.7787 | likely_pathogenic | 0.865 | pathogenic | -0.897 | Destabilizing | 0.997 | D | 0.846 | deleterious | None | None | None | -0.241(OBSL1) -0.098(OBSCN) | N |
| G/V | 0.9191 | likely_pathogenic | 0.9554 | pathogenic | -0.429 | Destabilizing | 0.998 | D | 0.841 | deleterious | D | 0.615175154 | None | -0.442(OBSL1) -0.312(OBSCN) | N |
| G/W | 0.8916 | likely_pathogenic | 0.9178 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | 0.222(OBSL1) 0.418(OBSCN) | N |
| G/Y | 0.8962 | likely_pathogenic | 0.9324 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | 0.272(OBSL1) 0.439(OBSCN) | 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.