Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35918 | 107977;107978;107979 | chr2:178527236;178527235;178527234 | chr2:179391963;179391962;179391961 |
| N2AB | 34277 | 103054;103055;103056 | chr2:178527236;178527235;178527234 | chr2:179391963;179391962;179391961 |
| N2A | 33350 | 100273;100274;100275 | chr2:178527236;178527235;178527234 | chr2:179391963;179391962;179391961 |
| N2B | 26853 | 80782;80783;80784 | chr2:178527236;178527235;178527234 | chr2:179391963;179391962;179391961 |
| Novex-1 | 26978 | 81157;81158;81159 | chr2:178527236;178527235;178527234 | chr2:179391963;179391962;179391961 |
| Novex-2 | 27045 | 81358;81359;81360 | chr2:178527236;178527235;178527234 | chr2:179391963;179391962;179391961 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs1053743149  |
-1.763 | 1.0 | D | 0.807 | 0.645 | 0.774586832184 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -1.785(OBSL1) -1.353(OBSCN) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/S | rs1053743149 |
-1.763 | 1.0 | D | 0.807 | 0.645 | 0.774586832184 | gnomAD-4.0.0 | 6.57056E-06 | None | None | None | -1.785(OBSL1) -1.353(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46972E-05 | 0 | 0 |
| C/Y | rs193212275 |
-1.373 | 1.0 | D | 0.917 | 0.594 | None | gnomAD-2.1.1 | 9.64E-05 | None | None | None | -1.32(OBSL1) -0.626(OBSCN) | N | None | 1.07607E-03 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/Y | rs193212275 |
-1.373 | 1.0 | D | 0.917 | 0.594 | None | gnomAD-3.1.2 | 2.82534E-04 | None | None | None | -1.32(OBSL1) -0.626(OBSCN) | N | None | 1.03784E-03 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs193212275 |
-1.373 | 1.0 | D | 0.917 | 0.594 | None | 1000 genomes | 3.99361E-04 | None | None | None | -1.32(OBSL1) -0.626(OBSCN) | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| C/Y | rs193212275 |
-1.373 | 1.0 | D | 0.917 | 0.594 | None | gnomAD-4.0.0 | 5.08117E-05 | None | None | None | -1.32(OBSL1) -0.626(OBSCN) | N | None | 9.8622E-04 | 1.66656E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 5.49197E-05 | 3.20092E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7773 | likely_pathogenic | 0.7796 | pathogenic | -1.917 | Destabilizing | 0.998 | D | 0.709 | prob.delet. | None | None | None | -1.004(OBSL1) -0.984(OBSCN) | N |
| C/D | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | -0.233(OBSL1) -0.634(OBSCN) | N |
| C/E | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | -0.266(OBSL1) -0.66(OBSCN) | N |
| C/F | 0.8988 | likely_pathogenic | 0.8665 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.5456205 | None | -1.054(OBSL1) -0.667(OBSCN) | N |
| C/G | 0.7428 | likely_pathogenic | 0.7355 | pathogenic | -2.311 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | N | 0.504803634 | None | -1.04(OBSL1) -1.021(OBSCN) | N |
| C/H | 0.9962 | likely_pathogenic | 0.9948 | pathogenic | -2.258 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | -1.052(OBSL1) -0.225(OBSCN) | N |
| C/I | 0.9268 | likely_pathogenic | 0.9231 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | -0.951(OBSL1) -0.877(OBSCN) | N |
| C/K | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | -2.011(OBSL1) -1.009(OBSCN) | N |
| C/L | 0.9179 | likely_pathogenic | 0.9029 | pathogenic | -0.844 | Destabilizing | 0.999 | D | 0.756 | deleterious | None | None | None | -0.951(OBSL1) -0.877(OBSCN) | N |
| C/M | 0.9653 | likely_pathogenic | 0.9595 | pathogenic | 0.352 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | -1.784(OBSL1) -0.474(OBSCN) | N |
| C/N | 0.9931 | likely_pathogenic | 0.9918 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | -1.774(OBSL1) -1.286(OBSCN) | N |
| C/P | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | -0.959(OBSL1) -0.911(OBSCN) | N |
| C/Q | 0.9976 | likely_pathogenic | 0.9966 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | -1.467(OBSL1) -1.092(OBSCN) | N |
| C/R | 0.9925 | likely_pathogenic | 0.989 | pathogenic | -1.416 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.545873989 | None | -2.372(OBSL1) -0.745(OBSCN) | N |
| C/S | 0.8349 | likely_pathogenic | 0.8449 | pathogenic | -2.207 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.5456205 | None | -1.785(OBSL1) -1.353(OBSCN) | N |
| C/T | 0.8957 | likely_pathogenic | 0.9024 | pathogenic | -1.76 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | -1.807(OBSL1) -1.318(OBSCN) | N |
| C/V | 0.7839 | likely_pathogenic | 0.7792 | pathogenic | -1.178 | Destabilizing | 0.999 | D | 0.776 | deleterious | None | None | None | -0.959(OBSL1) -0.911(OBSCN) | N |
| C/W | 0.9918 | likely_pathogenic | 0.9882 | pathogenic | -1.348 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.545873989 | None | -1.575(OBSL1) -0.615(OBSCN) | N |
| C/Y | 0.9781 | likely_pathogenic | 0.9709 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.5456205 | None | -1.32(OBSL1) -0.626(OBSCN) | 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.