Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33769 | 101530;101531;101532 | chr2:178535310;178535309;178535308 | chr2:179400037;179400036;179400035 |
| N2AB | 32128 | 96607;96608;96609 | chr2:178535310;178535309;178535308 | chr2:179400037;179400036;179400035 |
| N2A | 31201 | 93826;93827;93828 | chr2:178535310;178535309;178535308 | chr2:179400037;179400036;179400035 |
| N2B | 24704 | 74335;74336;74337 | chr2:178535310;178535309;178535308 | chr2:179400037;179400036;179400035 |
| Novex-1 | 24829 | 74710;74711;74712 | chr2:178535310;178535309;178535308 | chr2:179400037;179400036;179400035 |
| Novex-2 | 24896 | 74911;74912;74913 | chr2:178535310;178535309;178535308 | chr2:179400037;179400036;179400035 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs1553499045  |
None | 0.999 | D | 0.773 | 0.84 | 0.558031983626 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs1553499045 |
None | 0.999 | D | 0.773 | 0.84 | 0.558031983626 | gnomAD-4.0.0 | 6.57315E-06 | None | None | None | None | N | None | 0 | 6.54536E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/C | rs1690932780 |
None | 1.0 | D | 0.887 | 0.84 | 0.875651832405 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/C | rs1690932780 |
None | 1.0 | D | 0.887 | 0.84 | 0.875651832405 | gnomAD-4.0.0 | 6.57246E-06 | None | None | None | None | N | None | 0 | 6.54622E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1690932780 |
None | 1.0 | D | 0.873 | 0.838 | 0.55342899667 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9523 | likely_pathogenic | 0.9515 | pathogenic | -0.637 | Destabilizing | 0.999 | D | 0.773 | deleterious | D | 0.615896674 | None | None | N |
| G/C | 0.9851 | likely_pathogenic | 0.9851 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.642040199 | None | None | N |
| G/D | 0.9933 | likely_pathogenic | 0.9934 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.934 | deleterious | D | 0.608558487 | None | None | N |
| G/E | 0.9963 | likely_pathogenic | 0.996 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| G/F | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| G/H | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| G/I | 0.9977 | likely_pathogenic | 0.9973 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| G/K | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| G/L | 0.9956 | likely_pathogenic | 0.9952 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| G/M | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/N | 0.995 | likely_pathogenic | 0.9949 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| G/Q | 0.9953 | likely_pathogenic | 0.9952 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| G/R | 0.9917 | likely_pathogenic | 0.9921 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.931 | deleterious | D | 0.641434786 | None | None | N |
| G/S | 0.9348 | likely_pathogenic | 0.9363 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.615291262 | None | None | N |
| G/T | 0.9926 | likely_pathogenic | 0.9919 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| G/V | 0.9956 | likely_pathogenic | 0.9952 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.641838395 | None | None | N |
| G/W | 0.9966 | likely_pathogenic | 0.9967 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/Y | 0.997 | likely_pathogenic | 0.9966 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.906 | 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.