Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25894 | 77905;77906;77907 | chr2:178568452;178568451;178568450 | chr2:179433179;179433178;179433177 |
| N2AB | 24253 | 72982;72983;72984 | chr2:178568452;178568451;178568450 | chr2:179433179;179433178;179433177 |
| N2A | 23326 | 70201;70202;70203 | chr2:178568452;178568451;178568450 | chr2:179433179;179433178;179433177 |
| N2B | 16829 | 50710;50711;50712 | chr2:178568452;178568451;178568450 | chr2:179433179;179433178;179433177 |
| Novex-1 | 16954 | 51085;51086;51087 | chr2:178568452;178568451;178568450 | chr2:179433179;179433178;179433177 |
| Novex-2 | 17021 | 51286;51287;51288 | chr2:178568452;178568451;178568450 | chr2:179433179;179433178;179433177 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | None | None | 1.0 | D | 0.867 | 0.674 | 0.742901043909 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7766 | likely_pathogenic | 0.7988 | pathogenic | -2.388 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.612996386 | None | None | N |
| P/C | 0.959 | likely_pathogenic | 0.9658 | pathogenic | -2.054 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.432 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/E | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -3.193 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.949 | deleterious | None | None | None | None | N |
| P/G | 0.9945 | likely_pathogenic | 0.9949 | pathogenic | -2.908 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/H | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -2.657 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/I | 0.8962 | likely_pathogenic | 0.9211 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.947 | deleterious | None | None | None | None | N |
| P/K | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.048 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/L | 0.8999 | likely_pathogenic | 0.9152 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.650576699 | None | None | N |
| P/M | 0.9865 | likely_pathogenic | 0.9891 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| P/N | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.492 | Highly Destabilizing | 1.0 | D | 0.946 | deleterious | None | None | None | None | N |
| P/Q | 0.9974 | likely_pathogenic | 0.9978 | pathogenic | -2.278 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.650576699 | None | None | N |
| P/R | 0.9979 | likely_pathogenic | 0.998 | pathogenic | -1.871 | Destabilizing | 1.0 | D | 0.949 | deleterious | D | 0.650778503 | None | None | N |
| P/S | 0.9867 | likely_pathogenic | 0.9893 | pathogenic | -3.001 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.650576699 | None | None | N |
| P/T | 0.9618 | likely_pathogenic | 0.9725 | pathogenic | -2.637 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.634526978 | None | None | N |
| P/V | 0.7134 | likely_pathogenic | 0.7504 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.853 | Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.564 | Destabilizing | 1.0 | D | 0.951 | 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.