Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13974 | 42145;42146;42147 | chr2:178635269;178635268;178635267 | chr2:179499996;179499995;179499994 |
| N2AB | 12333 | 37222;37223;37224 | chr2:178635269;178635268;178635267 | chr2:179499996;179499995;179499994 |
| N2A | 11406 | 34441;34442;34443 | chr2:178635269;178635268;178635267 | chr2:179499996;179499995;179499994 |
| N2B | 4909 | 14950;14951;14952 | chr2:178635269;178635268;178635267 | chr2:179499996;179499995;179499994 |
| Novex-1 | 5034 | 15325;15326;15327 | chr2:178635269;178635268;178635267 | chr2:179499996;179499995;179499994 |
| Novex-2 | 5101 | 15526;15527;15528 | chr2:178635269;178635268;178635267 | chr2:179499996;179499995;179499994 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | None | None | 1.0 | D | 0.864 | 0.47 | 0.729516068776 | gnomAD-4.0.0 | 1.36881E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79928E-06 | 0 | 0 |
| V/I | rs373881831  |
-0.235 | 0.992 | N | 0.54 | 0.221 | None | gnomAD-2.1.1 | 3.93E-05 | None | None | None | None | N | None | 8.27E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 6.26E-05 | 0 |
| V/I | rs373881831 |
-0.235 | 0.992 | N | 0.54 | 0.221 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| V/I | rs373881831 |
-0.235 | 0.992 | N | 0.54 | 0.221 | None | gnomAD-4.0.0 | 3.34746E-05 | None | None | None | None | N | None | 4.00695E-05 | 3.33522E-05 | None | 0 | 0 | None | 0 | 0 | 3.9846E-05 | 1.09815E-05 | 1.6019E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6673 | likely_pathogenic | 0.5676 | pathogenic | -1.398 | Destabilizing | 0.996 | D | 0.51 | neutral | N | 0.474958589 | None | None | N |
| V/C | 0.9266 | likely_pathogenic | 0.899 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/D | 0.946 | likely_pathogenic | 0.907 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.541477575 | None | None | N |
| V/E | 0.8046 | likely_pathogenic | 0.6913 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/F | 0.7258 | likely_pathogenic | 0.6232 | pathogenic | -0.961 | Destabilizing | 0.999 | D | 0.818 | deleterious | D | 0.539562415 | None | None | N |
| V/G | 0.8747 | likely_pathogenic | 0.8036 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.541289592 | None | None | N |
| V/H | 0.9502 | likely_pathogenic | 0.9043 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/I | 0.1088 | likely_benign | 0.0966 | benign | -0.471 | Destabilizing | 0.992 | D | 0.54 | neutral | N | 0.420734262 | None | None | N |
| V/K | 0.7348 | likely_pathogenic | 0.5436 | ambiguous | -1.074 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/L | 0.6676 | likely_pathogenic | 0.5547 | ambiguous | -0.471 | Destabilizing | 0.475 | N | 0.257 | neutral | N | 0.43061473 | None | None | N |
| V/M | 0.3873 | ambiguous | 0.2868 | benign | -0.439 | Destabilizing | 0.998 | D | 0.708 | prob.delet. | None | None | None | None | N |
| V/N | 0.8453 | likely_pathogenic | 0.7753 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/P | 0.9973 | likely_pathogenic | 0.9959 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/Q | 0.7023 | likely_pathogenic | 0.5756 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/R | 0.748 | likely_pathogenic | 0.5858 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| V/S | 0.8222 | likely_pathogenic | 0.7451 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| V/T | 0.4945 | ambiguous | 0.4055 | ambiguous | -1.372 | Destabilizing | 0.997 | D | 0.606 | neutral | None | None | None | None | N |
| V/W | 0.9932 | likely_pathogenic | 0.9874 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| V/Y | 0.9501 | likely_pathogenic | 0.9182 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.813 | 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.