Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26973 | 81142;81143;81144 | chr2:178565215;178565214;178565213 | chr2:179429942;179429941;179429940 |
| N2AB | 25332 | 76219;76220;76221 | chr2:178565215;178565214;178565213 | chr2:179429942;179429941;179429940 |
| N2A | 24405 | 73438;73439;73440 | chr2:178565215;178565214;178565213 | chr2:179429942;179429941;179429940 |
| N2B | 17908 | 53947;53948;53949 | chr2:178565215;178565214;178565213 | chr2:179429942;179429941;179429940 |
| Novex-1 | 18033 | 54322;54323;54324 | chr2:178565215;178565214;178565213 | chr2:179429942;179429941;179429940 |
| Novex-2 | 18100 | 54523;54524;54525 | chr2:178565215;178565214;178565213 | chr2:179429942;179429941;179429940 |
| 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/A | rs148598047  |
-2.098 | 0.999 | D | 0.841 | 0.703 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.24131E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs148598047 |
-2.098 | 0.999 | D | 0.841 | 0.703 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.93125E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs148598047 |
-2.098 | 0.999 | D | 0.841 | 0.703 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/A | rs148598047 |
-2.098 | 0.999 | D | 0.841 | 0.703 | None | gnomAD-4.0.0 | 6.81734E-06 | None | None | None | None | N | None | 1.46667E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8904 | likely_pathogenic | 0.8812 | pathogenic | -1.992 | Destabilizing | 0.999 | D | 0.841 | deleterious | D | 0.628878203 | None | None | N |
| P/C | 0.9937 | likely_pathogenic | 0.9925 | pathogenic | -2.307 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/D | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -3.39 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/E | 0.9967 | likely_pathogenic | 0.9971 | pathogenic | -3.268 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/G | 0.9925 | likely_pathogenic | 0.991 | pathogenic | -2.351 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/H | 0.9974 | likely_pathogenic | 0.9975 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.671273253 | None | None | N |
| P/I | 0.9916 | likely_pathogenic | 0.9925 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/K | 0.9983 | likely_pathogenic | 0.9986 | pathogenic | -1.737 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| P/L | 0.9705 | likely_pathogenic | 0.9734 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.654819923 | None | None | N |
| P/M | 0.9958 | likely_pathogenic | 0.9956 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/N | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -2.101 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/Q | 0.9962 | likely_pathogenic | 0.9964 | pathogenic | -2.156 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/R | 0.9939 | likely_pathogenic | 0.9952 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.654819923 | None | None | N |
| P/S | 0.9905 | likely_pathogenic | 0.987 | pathogenic | -2.504 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.670869644 | None | None | N |
| P/T | 0.9799 | likely_pathogenic | 0.9775 | pathogenic | -2.276 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.654819923 | None | None | N |
| P/V | 0.9766 | likely_pathogenic | 0.9781 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.506 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.869 | 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.