Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10143 | 30652;30653;30654 | chr2:178702460;178702459;178702458 | chr2:179567187;179567186;179567185 |
| N2AB | 9826 | 29701;29702;29703 | chr2:178702460;178702459;178702458 | chr2:179567187;179567186;179567185 |
| N2A | 8899 | 26920;26921;26922 | chr2:178702460;178702459;178702458 | chr2:179567187;179567186;179567185 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs766264907  |
None | 1.0 | None | 0.864 | 0.645 | 0.751722793294 | gnomAD-4.0.0 | 1.11375E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.94078E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs766264907 |
-0.243 | 1.0 | None | 0.796 | 0.655 | 0.703670902771 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs766264907 |
-0.243 | 1.0 | None | 0.796 | 0.655 | 0.703670902771 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs766264907 |
-0.243 | 1.0 | None | 0.796 | 0.655 | 0.703670902771 | gnomAD-4.0.0 | 6.57531E-06 | None | None | None | None | N | None | 2.41511E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs1553875406 |
None | 1.0 | None | 0.797 | 0.53 | 0.669929112853 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 1.94099E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9965 | likely_pathogenic | 0.9978 | pathogenic | 0.815 | Stabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| D/C | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | 0.599 | Stabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| D/E | 0.9881 | likely_pathogenic | 0.9914 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.575 | neutral | None | None | None | None | N |
| D/F | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | 1.392 | Stabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| D/G | 0.9969 | likely_pathogenic | 0.9981 | pathogenic | 0.323 | Stabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| D/H | 0.9969 | likely_pathogenic | 0.9978 | pathogenic | 0.901 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/I | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | 2.138 | Highly Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| D/K | 0.9988 | likely_pathogenic | 0.999 | pathogenic | 0.305 | Stabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| D/L | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | 2.138 | Highly Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/M | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | 2.505 | Highly Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/N | 0.983 | likely_pathogenic | 0.9876 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | 1.729 | Stabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| D/Q | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -0.076 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| D/R | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | 0.167 | Stabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| D/S | 0.994 | likely_pathogenic | 0.996 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| D/T | 0.9982 | likely_pathogenic | 0.9989 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/V | 0.9979 | likely_pathogenic | 0.9986 | pathogenic | 1.729 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | 1.251 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| D/Y | 0.9961 | likely_pathogenic | 0.9974 | pathogenic | 1.617 | Stabilizing | 1.0 | D | 0.87 | 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.