Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7826 | 23701;23702;23703 | chr2:178720166;178720165;178720164 | chr2:179584893;179584892;179584891 |
| N2AB | 7509 | 22750;22751;22752 | chr2:178720166;178720165;178720164 | chr2:179584893;179584892;179584891 |
| N2A | 6582 | 19969;19970;19971 | chr2:178720166;178720165;178720164 | chr2:179584893;179584892;179584891 |
| 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 | rs200663337  |
-1.852 | 0.873 | D | 0.614 | 0.606 | None | gnomAD-2.1.1 | 6.43E-05 | None | None | None | None | I | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 2.79799E-04 | 7.83E-05 | 0 |
| V/A | rs200663337 |
-1.852 | 0.873 | D | 0.614 | 0.606 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 2.8238E-04 | 0 | 4.41E-05 | 0 | 0 |
| V/A | rs200663337 |
-1.852 | 0.873 | D | 0.614 | 0.606 | None | gnomAD-4.0.0 | 7.74644E-05 | None | None | None | None | I | None | 1.33504E-05 | 1.66694E-05 | None | 0 | 0 | None | 2.8118E-04 | 0 | 8.73069E-05 | 0 | 3.20246E-05 |
| V/F | rs746798612 |
None | 0.978 | D | 0.782 | 0.652 | 0.897645058709 | gnomAD-4.0.0 | 7.52669E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99512E-06 | 0 | 1.65673E-05 |
| V/I | rs746798612 |
-0.083 | 0.003 | N | 0.237 | 0.161 | 0.604919980721 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.30745E-04 | None | 0 | 0 | 0 |
| V/I | rs746798612 |
-0.083 | 0.003 | N | 0.237 | 0.161 | 0.604919980721 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| V/I | rs746798612 |
-0.083 | 0.003 | N | 0.237 | 0.161 | 0.604919980721 | gnomAD-4.0.0 | 7.43667E-06 | None | None | None | None | I | None | 1.33504E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09806E-04 | 1.60128E-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 | 0.5892 | likely_pathogenic | 0.4644 | ambiguous | -1.434 | Destabilizing | 0.873 | D | 0.614 | neutral | D | 0.581747034 | None | None | I |
| V/C | 0.9637 | likely_pathogenic | 0.9466 | pathogenic | -0.941 | Destabilizing | 0.999 | D | 0.746 | deleterious | None | None | None | None | I |
| V/D | 0.9927 | likely_pathogenic | 0.9869 | pathogenic | -1.445 | Destabilizing | 0.997 | D | 0.855 | deleterious | D | 0.63592176 | None | None | I |
| V/E | 0.9767 | likely_pathogenic | 0.9628 | pathogenic | -1.322 | Destabilizing | 0.987 | D | 0.854 | deleterious | None | None | None | None | I |
| V/F | 0.6147 | likely_pathogenic | 0.559 | ambiguous | -0.848 | Destabilizing | 0.978 | D | 0.782 | deleterious | D | 0.573651631 | None | None | I |
| V/G | 0.8961 | likely_pathogenic | 0.839 | pathogenic | -1.872 | Destabilizing | 0.998 | D | 0.858 | deleterious | D | 0.63592176 | None | None | I |
| V/H | 0.9912 | likely_pathogenic | 0.9848 | pathogenic | -1.517 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | I |
| V/I | 0.0899 | likely_benign | 0.0891 | benign | -0.282 | Destabilizing | 0.003 | N | 0.237 | neutral | N | 0.493354724 | None | None | I |
| V/K | 0.9824 | likely_pathogenic | 0.9719 | pathogenic | -1.214 | Destabilizing | 0.982 | D | 0.855 | deleterious | None | None | None | None | I |
| V/L | 0.5304 | ambiguous | 0.4895 | ambiguous | -0.282 | Destabilizing | 0.18 | N | 0.573 | neutral | D | 0.565041897 | None | None | I |
| V/M | 0.3917 | ambiguous | 0.3471 | ambiguous | -0.269 | Destabilizing | 0.977 | D | 0.712 | prob.delet. | None | None | None | None | I |
| V/N | 0.975 | likely_pathogenic | 0.9554 | pathogenic | -1.262 | Destabilizing | 0.962 | D | 0.867 | deleterious | None | None | None | None | I |
| V/P | 0.9726 | likely_pathogenic | 0.9514 | pathogenic | -0.633 | Destabilizing | 0.962 | D | 0.847 | deleterious | None | None | None | None | I |
| V/Q | 0.974 | likely_pathogenic | 0.96 | pathogenic | -1.225 | Destabilizing | 0.992 | D | 0.861 | deleterious | None | None | None | None | I |
| V/R | 0.972 | likely_pathogenic | 0.9565 | pathogenic | -0.955 | Destabilizing | 0.997 | D | 0.871 | deleterious | None | None | None | None | I |
| V/S | 0.884 | likely_pathogenic | 0.8089 | pathogenic | -1.847 | Destabilizing | 0.985 | D | 0.851 | deleterious | None | None | None | None | I |
| V/T | 0.6415 | likely_pathogenic | 0.5124 | ambiguous | -1.588 | Destabilizing | 0.786 | D | 0.711 | prob.delet. | None | None | None | None | I |
| V/W | 0.9924 | likely_pathogenic | 0.9884 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| V/Y | 0.9693 | likely_pathogenic | 0.955 | pathogenic | -0.831 | Destabilizing | 0.997 | D | 0.769 | 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.