Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25429 | 76510;76511;76512 | chr2:178569847;178569846;178569845 | chr2:179434574;179434573;179434572 |
| N2AB | 23788 | 71587;71588;71589 | chr2:178569847;178569846;178569845 | chr2:179434574;179434573;179434572 |
| N2A | 22861 | 68806;68807;68808 | chr2:178569847;178569846;178569845 | chr2:179434574;179434573;179434572 |
| N2B | 16364 | 49315;49316;49317 | chr2:178569847;178569846;178569845 | chr2:179434574;179434573;179434572 |
| Novex-1 | 16489 | 49690;49691;49692 | chr2:178569847;178569846;178569845 | chr2:179434574;179434573;179434572 |
| Novex-2 | 16556 | 49891;49892;49893 | chr2:178569847;178569846;178569845 | chr2:179434574;179434573;179434572 |
| 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/R | None | None | 1.0 | D | 0.901 | 0.696 | 0.86290857626 | 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 |
| P/T | rs1707494273  |
None | 1.0 | D | 0.869 | 0.696 | 0.815910387833 | gnomAD-4.0.0 | 1.59191E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77593E-05 | 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 | 0.9063 | likely_pathogenic | 0.941 | pathogenic | -2.016 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.608362017 | None | None | N |
| P/C | 0.9955 | likely_pathogenic | 0.9966 | pathogenic | -1.489 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -2.526 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/E | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -2.427 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/G | 0.9915 | likely_pathogenic | 0.9932 | pathogenic | -2.45 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/H | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -2.172 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/I | 0.9961 | likely_pathogenic | 0.9969 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/L | 0.9803 | likely_pathogenic | 0.984 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.634101932 | None | None | N |
| P/M | 0.9969 | likely_pathogenic | 0.9974 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/N | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -1.799 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/Q | 0.9969 | likely_pathogenic | 0.9973 | pathogenic | -1.843 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.634303737 | None | None | N |
| P/R | 0.9972 | likely_pathogenic | 0.9974 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.634303737 | None | None | N |
| P/S | 0.9843 | likely_pathogenic | 0.9901 | pathogenic | -2.328 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.583813284 | None | None | N |
| P/T | 0.982 | likely_pathogenic | 0.9883 | pathogenic | -2.111 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.612974949 | None | None | N |
| P/V | 0.9845 | likely_pathogenic | 0.9892 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.781 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.467 | Destabilizing | 1.0 | D | 0.903 | 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.