Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20998 | 63217;63218;63219 | chr2:178588733;178588732;178588731 | chr2:179453460;179453459;179453458 |
| N2AB | 19357 | 58294;58295;58296 | chr2:178588733;178588732;178588731 | chr2:179453460;179453459;179453458 |
| N2A | 18430 | 55513;55514;55515 | chr2:178588733;178588732;178588731 | chr2:179453460;179453459;179453458 |
| N2B | 11933 | 36022;36023;36024 | chr2:178588733;178588732;178588731 | chr2:179453460;179453459;179453458 |
| Novex-1 | 12058 | 36397;36398;36399 | chr2:178588733;178588732;178588731 | chr2:179453460;179453459;179453458 |
| Novex-2 | 12125 | 36598;36599;36600 | chr2:178588733;178588732;178588731 | chr2:179453460;179453459;179453458 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/N | rs1344599451  |
None | 1.0 | D | 0.84 | 0.855 | 0.930646659935 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/N | rs1344599451 |
None | 1.0 | D | 0.84 | 0.855 | 0.930646659935 | gnomAD-4.0.0 | 6.57765E-06 | None | None | None | None | N | None | 2.41453E-05 | 0 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -3.409 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| Y/C | 0.9435 | likely_pathogenic | 0.9372 | pathogenic | -1.672 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.656995152 | None | None | N |
| Y/D | 0.9974 | likely_pathogenic | 0.9972 | pathogenic | -3.799 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.657196956 | None | None | N |
| Y/E | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -3.588 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/F | 0.4127 | ambiguous | 0.3166 | benign | -1.447 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | D | 0.565806241 | None | None | N |
| Y/G | 0.9929 | likely_pathogenic | 0.9933 | pathogenic | -3.794 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| Y/H | 0.9903 | likely_pathogenic | 0.9858 | pathogenic | -2.591 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.656591543 | None | None | N |
| Y/I | 0.9809 | likely_pathogenic | 0.9787 | pathogenic | -2.095 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| Y/K | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.429 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| Y/L | 0.967 | likely_pathogenic | 0.9679 | pathogenic | -2.095 | Highly Destabilizing | 0.999 | D | 0.74 | deleterious | None | None | None | None | N |
| Y/M | 0.9924 | likely_pathogenic | 0.991 | pathogenic | -1.708 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| Y/N | 0.9849 | likely_pathogenic | 0.9837 | pathogenic | -3.224 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.656995152 | None | None | N |
| Y/P | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.553 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| Y/Q | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -2.962 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| Y/R | 0.9969 | likely_pathogenic | 0.9965 | pathogenic | -2.232 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| Y/S | 0.9909 | likely_pathogenic | 0.991 | pathogenic | -3.471 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.656995152 | None | None | N |
| Y/T | 0.9972 | likely_pathogenic | 0.9969 | pathogenic | -3.149 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| Y/V | 0.9718 | likely_pathogenic | 0.9709 | pathogenic | -2.553 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| Y/W | 0.8963 | likely_pathogenic | 0.8772 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.785 | 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.