Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29244 | 87955;87956;87957 | chr2:178557532;178557531;178557530 | chr2:179422259;179422258;179422257 |
| N2AB | 27603 | 83032;83033;83034 | chr2:178557532;178557531;178557530 | chr2:179422259;179422258;179422257 |
| N2A | 26676 | 80251;80252;80253 | chr2:178557532;178557531;178557530 | chr2:179422259;179422258;179422257 |
| N2B | 20179 | 60760;60761;60762 | chr2:178557532;178557531;178557530 | chr2:179422259;179422258;179422257 |
| Novex-1 | 20304 | 61135;61136;61137 | chr2:178557532;178557531;178557530 | chr2:179422259;179422258;179422257 |
| Novex-2 | 20371 | 61336;61337;61338 | chr2:178557532;178557531;178557530 | chr2:179422259;179422258;179422257 |
| 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/A | rs779810701  |
-1.407 | 1.0 | N | 0.847 | 0.458 | 0.395143324098 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs779810701 |
-1.407 | 1.0 | N | 0.847 | 0.458 | 0.395143324098 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs779810701 |
-1.407 | 1.0 | N | 0.847 | 0.458 | 0.395143324098 | gnomAD-4.0.0 | 1.31306E-05 | None | None | None | None | I | None | 4.80977E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs779810701 |
-1.667 | 1.0 | D | 0.843 | 0.468 | 0.448399296293 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| P/S | rs779810701 |
-1.667 | 1.0 | D | 0.843 | 0.468 | 0.448399296293 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs779810701 |
-1.667 | 1.0 | D | 0.843 | 0.468 | 0.448399296293 | gnomAD-4.0.0 | 4.33763E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.56216E-05 | 0 | 5.08536E-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 | 0.6894 | likely_pathogenic | 0.7535 | pathogenic | -2.036 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.50486827 | None | None | I |
| P/C | 0.9362 | likely_pathogenic | 0.9599 | pathogenic | -1.748 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| P/D | 0.999 | likely_pathogenic | 0.9995 | pathogenic | -2.844 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| P/E | 0.9974 | likely_pathogenic | 0.9987 | pathogenic | -2.601 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| P/F | 0.9982 | likely_pathogenic | 0.9989 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| P/G | 0.9813 | likely_pathogenic | 0.9884 | pathogenic | -2.556 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| P/H | 0.9956 | likely_pathogenic | 0.998 | pathogenic | -2.379 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| P/I | 0.9053 | likely_pathogenic | 0.9204 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| P/K | 0.9983 | likely_pathogenic | 0.9991 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| P/L | 0.7272 | likely_pathogenic | 0.7872 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.876 | deleterious | N | 0.505039784 | None | None | I |
| P/M | 0.9717 | likely_pathogenic | 0.9799 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| P/N | 0.9954 | likely_pathogenic | 0.998 | pathogenic | -1.922 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | I |
| P/Q | 0.9933 | likely_pathogenic | 0.9967 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.540115728 | None | None | I |
| P/R | 0.994 | likely_pathogenic | 0.9969 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.540115728 | None | None | I |
| P/S | 0.9599 | likely_pathogenic | 0.9784 | pathogenic | -2.455 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.539862239 | None | None | I |
| P/T | 0.9161 | likely_pathogenic | 0.9491 | pathogenic | -2.073 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.539608749 | None | None | I |
| P/V | 0.7728 | likely_pathogenic | 0.8056 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| P/W | 0.9996 | likely_pathogenic | 0.9999 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| P/Y | 0.9991 | likely_pathogenic | 0.9996 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
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.