Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31114 | 93565;93566;93567 | chr2:178548286;178548285;178548284 | chr2:179413013;179413012;179413011 |
| N2AB | 29473 | 88642;88643;88644 | chr2:178548286;178548285;178548284 | chr2:179413013;179413012;179413011 |
| N2A | 28546 | 85861;85862;85863 | chr2:178548286;178548285;178548284 | chr2:179413013;179413012;179413011 |
| N2B | 22049 | 66370;66371;66372 | chr2:178548286;178548285;178548284 | chr2:179413013;179413012;179413011 |
| Novex-1 | 22174 | 66745;66746;66747 | chr2:178548286;178548285;178548284 | chr2:179413013;179413012;179413011 |
| Novex-2 | 22241 | 66946;66947;66948 | chr2:178548286;178548285;178548284 | chr2:179413013;179413012;179413011 |
| 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/L | rs1698006505  |
None | 1.0 | D | 0.846 | 0.601 | 0.851893296816 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-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 | 0.8837 | likely_pathogenic | 0.8523 | pathogenic | -1.404 | Destabilizing | 0.999 | D | 0.805 | deleterious | D | 0.549659425 | None | None | N |
| P/C | 0.9923 | likely_pathogenic | 0.9895 | pathogenic | -1.789 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9987 | pathogenic | -3.274 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| P/E | 0.9981 | likely_pathogenic | 0.9961 | pathogenic | -3.175 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9988 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/G | 0.9929 | likely_pathogenic | 0.9893 | pathogenic | -1.747 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| P/H | 0.9983 | likely_pathogenic | 0.9959 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.569031127 | None | None | N |
| P/I | 0.9898 | likely_pathogenic | 0.9796 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/K | 0.9988 | likely_pathogenic | 0.9974 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/L | 0.9581 | likely_pathogenic | 0.9136 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.566496232 | None | None | N |
| P/M | 0.9946 | likely_pathogenic | 0.988 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/N | 0.9992 | likely_pathogenic | 0.9982 | pathogenic | -1.799 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/Q | 0.9973 | likely_pathogenic | 0.9938 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/R | 0.9961 | likely_pathogenic | 0.9929 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.568270659 | None | None | N |
| P/S | 0.9921 | likely_pathogenic | 0.986 | pathogenic | -2.052 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.549912914 | None | None | N |
| P/T | 0.9864 | likely_pathogenic | 0.9728 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.556407374 | None | None | N |
| P/V | 0.9666 | likely_pathogenic | 0.9426 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9987 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.865 | 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.