Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8549 | 25870;25871;25872 | chr2:178715769;178715768;178715767 | chr2:179580496;179580495;179580494 |
| N2AB | 8232 | 24919;24920;24921 | chr2:178715769;178715768;178715767 | chr2:179580496;179580495;179580494 |
| N2A | 7305 | 22138;22139;22140 | chr2:178715769;178715768;178715767 | chr2:179580496;179580495;179580494 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/H | rs774351461  |
-1.608 | 1.0 | D | 0.879 | 0.83 | 0.877040243179 | gnomAD-2.1.1 | 5.34E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.13999E-04 | 1.62813E-04 |
| P/H | rs774351461 |
-1.608 | 1.0 | D | 0.879 | 0.83 | 0.877040243179 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| P/H | rs774351461 |
-1.608 | 1.0 | D | 0.879 | 0.83 | 0.877040243179 | gnomAD-4.0.0 | 8.6227E-05 | None | None | None | None | N | None | 5.40205E-05 | 1.83043E-05 | None | 0 | 0 | None | 0 | 0 | 1.07783E-04 | 0 | 9.82157E-05 |
| P/L | None | None | 1.0 | D | 0.911 | 0.852 | 0.917192438884 | gnomAD-4.0.0 | 1.40334E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.9142E-05 | 0 | 0 | 0 | 0 |
| P/S | rs536374359 |
-1.616 | 1.0 | D | 0.907 | 0.853 | 0.686436817987 | gnomAD-2.1.1 | 3.66E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.97937E-04 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs536374359 |
-1.616 | 1.0 | D | 0.907 | 0.853 | 0.686436817987 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.78258E-04 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| P/S | rs536374359 |
-1.616 | 1.0 | D | 0.907 | 0.853 | 0.686436817987 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| P/S | rs536374359 |
-1.616 | 1.0 | D | 0.907 | 0.853 | 0.686436817987 | gnomAD-4.0.0 | 2.34722E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.28424E-04 | None | 0 | 0 | 0 | 0 | 1.63736E-05 |
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 | 0.6516 | likely_pathogenic | 0.632 | pathogenic | -1.637 | Destabilizing | 0.999 | D | 0.85 | deleterious | D | 0.606797585 | None | None | N |
| P/C | 0.9847 | likely_pathogenic | 0.9837 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.324 | Destabilizing | 0.999 | D | 0.91 | deleterious | None | None | None | None | N |
| P/E | 0.9969 | likely_pathogenic | 0.9964 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/F | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/G | 0.9827 | likely_pathogenic | 0.981 | pathogenic | -1.964 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/H | 0.9961 | likely_pathogenic | 0.9954 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.655693245 | None | None | N |
| P/I | 0.9635 | likely_pathogenic | 0.9619 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/K | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/L | 0.8838 | likely_pathogenic | 0.8809 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.63947208 | None | None | N |
| P/M | 0.9862 | likely_pathogenic | 0.9845 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/N | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/Q | 0.9922 | likely_pathogenic | 0.9905 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/R | 0.992 | likely_pathogenic | 0.9908 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.655693245 | None | None | N |
| P/S | 0.9564 | likely_pathogenic | 0.9495 | pathogenic | -1.656 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.629751525 | None | None | N |
| P/T | 0.948 | likely_pathogenic | 0.942 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.655491441 | None | None | N |
| P/V | 0.8998 | likely_pathogenic | 0.8922 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.918 | 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.