Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9772 | 29539;29540;29541 | chr2:178706560;178706559;178706558 | chr2:179571287;179571286;179571285 |
| N2AB | 9455 | 28588;28589;28590 | chr2:178706560;178706559;178706558 | chr2:179571287;179571286;179571285 |
| N2A | 8528 | 25807;25808;25809 | chr2:178706560;178706559;178706558 | chr2:179571287;179571286;179571285 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.998 | None | 0.597 | 0.473 | 0.664811939827 | gnomAD-4.0.0 | 6.84163E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99421E-07 | 0 | 0 |
| V/E | rs1430077040  |
-2.79 | 1.0 | None | 0.831 | 0.567 | 0.836324807194 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/E | rs1430077040 |
-2.79 | 1.0 | None | 0.831 | 0.567 | 0.836324807194 | gnomAD-4.0.0 | 6.84163E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15947E-05 | 0 |
| V/M | rs563073635 |
-1.093 | 1.0 | None | 0.802 | 0.324 | None | gnomAD-2.1.1 | 5.7E-05 | None | None | None | None | N | None | 1.6533E-04 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.57E-05 | 0 |
| V/M | rs563073635 |
-1.093 | 1.0 | None | 0.802 | 0.324 | None | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 1.20732E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| V/M | rs563073635 |
-1.093 | 1.0 | None | 0.802 | 0.324 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| V/M | rs563073635 |
-1.093 | 1.0 | None | 0.802 | 0.324 | None | gnomAD-4.0.0 | 4.89506E-05 | None | None | None | None | N | None | 9.33184E-05 | 3.33278E-05 | None | 0 | 0 | None | 0 | 0 | 5.76352E-05 | 0 | 3.20051E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7846 | likely_pathogenic | 0.6339 | pathogenic | -2.139 | Highly Destabilizing | 0.998 | D | 0.597 | neutral | None | None | None | None | N |
| V/C | 0.9725 | likely_pathogenic | 0.9512 | pathogenic | -1.525 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| V/D | 0.979 | likely_pathogenic | 0.9493 | pathogenic | -2.848 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/E | 0.892 | likely_pathogenic | 0.7916 | pathogenic | -2.69 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| V/F | 0.6833 | likely_pathogenic | 0.5061 | ambiguous | -1.257 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| V/G | 0.9155 | likely_pathogenic | 0.8232 | pathogenic | -2.58 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/H | 0.9525 | likely_pathogenic | 0.9084 | pathogenic | -2.291 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| V/I | 0.1209 | likely_benign | 0.1071 | benign | -0.923 | Destabilizing | 0.813 | D | 0.343 | neutral | None | None | None | None | N |
| V/K | 0.8098 | likely_pathogenic | 0.7015 | pathogenic | -1.801 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/L | 0.6992 | likely_pathogenic | 0.5457 | ambiguous | -0.923 | Destabilizing | 0.992 | D | 0.555 | neutral | None | None | None | None | N |
| V/M | 0.5064 | ambiguous | 0.2798 | benign | -0.921 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| V/N | 0.932 | likely_pathogenic | 0.8707 | pathogenic | -1.958 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/P | 0.9987 | likely_pathogenic | 0.9968 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/Q | 0.8433 | likely_pathogenic | 0.7287 | pathogenic | -1.905 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/R | 0.7794 | likely_pathogenic | 0.6401 | pathogenic | -1.471 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/S | 0.8513 | likely_pathogenic | 0.7447 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/T | 0.6371 | likely_pathogenic | 0.5125 | ambiguous | -2.2 | Highly Destabilizing | 0.998 | D | 0.696 | prob.neutral | None | None | None | None | N |
| V/W | 0.9887 | likely_pathogenic | 0.9709 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/Y | 0.9549 | likely_pathogenic | 0.9078 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.859 | 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.