Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27174 | 81745;81746;81747 | chr2:178564612;178564611;178564610 | chr2:179429339;179429338;179429337 |
| N2AB | 25533 | 76822;76823;76824 | chr2:178564612;178564611;178564610 | chr2:179429339;179429338;179429337 |
| N2A | 24606 | 74041;74042;74043 | chr2:178564612;178564611;178564610 | chr2:179429339;179429338;179429337 |
| N2B | 18109 | 54550;54551;54552 | chr2:178564612;178564611;178564610 | chr2:179429339;179429338;179429337 |
| Novex-1 | 18234 | 54925;54926;54927 | chr2:178564612;178564611;178564610 | chr2:179429339;179429338;179429337 |
| Novex-2 | 18301 | 55126;55127;55128 | chr2:178564612;178564611;178564610 | chr2:179429339;179429338;179429337 |
| 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 | None | None | 1.0 | D | 0.909 | 0.651 | 0.849778887746 | gnomAD-4.0.0 | 5.47467E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29683E-06 | 0 | 1.65711E-05 |
| P/R | None | None | 1.0 | D | 0.929 | 0.648 | 0.783804347082 | gnomAD-4.0.0 | 1.36867E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7991E-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 | 0.8577 | likely_pathogenic | 0.8046 | pathogenic | -2.177 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.634123369 | None | None | N |
| P/C | 0.9924 | likely_pathogenic | 0.9892 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.243 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/E | 0.9985 | likely_pathogenic | 0.9981 | pathogenic | -3.002 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/G | 0.9953 | likely_pathogenic | 0.9941 | pathogenic | -2.699 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/H | 0.9987 | likely_pathogenic | 0.9982 | pathogenic | -2.43 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.666767504 | None | None | N |
| P/I | 0.9916 | likely_pathogenic | 0.9875 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| P/K | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/L | 0.9702 | likely_pathogenic | 0.9568 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.634325174 | None | None | N |
| P/M | 0.9972 | likely_pathogenic | 0.9958 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/N | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.178 | Highly Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| P/Q | 0.9979 | likely_pathogenic | 0.997 | pathogenic | -1.966 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/R | 0.9964 | likely_pathogenic | 0.9955 | pathogenic | -1.618 | Destabilizing | 1.0 | D | 0.929 | deleterious | D | 0.6665657 | None | None | N |
| P/S | 0.9908 | likely_pathogenic | 0.986 | pathogenic | -2.696 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.666363895 | None | None | N |
| P/T | 0.9849 | likely_pathogenic | 0.9781 | pathogenic | -2.316 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.641027588 | None | None | N |
| P/V | 0.9697 | likely_pathogenic | 0.956 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.65 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.925 | 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.