Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26299 | 79120;79121;79122 | chr2:178567237;178567236;178567235 | chr2:179431964;179431963;179431962 |
| N2AB | 24658 | 74197;74198;74199 | chr2:178567237;178567236;178567235 | chr2:179431964;179431963;179431962 |
| N2A | 23731 | 71416;71417;71418 | chr2:178567237;178567236;178567235 | chr2:179431964;179431963;179431962 |
| N2B | 17234 | 51925;51926;51927 | chr2:178567237;178567236;178567235 | chr2:179431964;179431963;179431962 |
| Novex-1 | 17359 | 52300;52301;52302 | chr2:178567237;178567236;178567235 | chr2:179431964;179431963;179431962 |
| Novex-2 | 17426 | 52501;52502;52503 | chr2:178567237;178567236;178567235 | chr2:179431964;179431963;179431962 |
| 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/D | rs73036377  |
-0.436 | 1.0 | D | 0.833 | 0.608 | None | gnomAD-2.1.1 | 2.07238E-04 | None | None | None | None | N | None | 2.1968E-03 | 8.62E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.43926E-04 |
| V/D | rs73036377 |
-0.436 | 1.0 | D | 0.833 | 0.608 | None | gnomAD-3.1.2 | 6.25082E-04 | None | None | None | None | N | None | 1.93227E-03 | 9.18153E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| V/D | rs73036377 |
-0.436 | 1.0 | D | 0.833 | 0.608 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | N | None | 2.3E-03 | 4.3E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/D | rs73036377 |
-0.436 | 1.0 | D | 0.833 | 0.608 | None | gnomAD-4.0.0 | 1.014E-04 | None | None | None | None | N | None | 1.83454E-03 | 3.02989E-04 | None | 0 | 0 | None | 0 | 1.66279E-04 | 0 | 0 | 1.12652E-04 |
| V/L | None | None | 0.997 | N | 0.507 | 0.305 | 0.505091552036 | gnomAD-4.0.0 | 1.60738E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.44141E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4939 | ambiguous | 0.502 | ambiguous | -1.189 | Destabilizing | 0.999 | D | 0.526 | neutral | N | 0.481994756 | None | None | N |
| V/C | 0.8343 | likely_pathogenic | 0.8387 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| V/D | 0.8972 | likely_pathogenic | 0.9026 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.526534605 | None | None | N |
| V/E | 0.7373 | likely_pathogenic | 0.7451 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/F | 0.3908 | ambiguous | 0.3784 | ambiguous | -1.279 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.508051956 | None | None | N |
| V/G | 0.5949 | likely_pathogenic | 0.6084 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.522940207 | None | None | N |
| V/H | 0.8987 | likely_pathogenic | 0.905 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| V/I | 0.0614 | likely_benign | 0.0594 | benign | -0.702 | Destabilizing | 0.997 | D | 0.464 | neutral | N | 0.4887934 | None | None | N |
| V/K | 0.6864 | likely_pathogenic | 0.6976 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| V/L | 0.3125 | likely_benign | 0.3099 | benign | -0.702 | Destabilizing | 0.997 | D | 0.507 | neutral | N | 0.520425816 | None | None | N |
| V/M | 0.1838 | likely_benign | 0.184 | benign | -0.46 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| V/N | 0.7124 | likely_pathogenic | 0.7237 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/P | 0.8247 | likely_pathogenic | 0.8066 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/Q | 0.6536 | likely_pathogenic | 0.6728 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| V/R | 0.6989 | likely_pathogenic | 0.7097 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/S | 0.6321 | likely_pathogenic | 0.6484 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| V/T | 0.4182 | ambiguous | 0.4344 | ambiguous | -1.053 | Destabilizing | 0.999 | D | 0.618 | neutral | None | None | None | None | N |
| V/W | 0.9522 | likely_pathogenic | 0.9488 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| V/Y | 0.8416 | likely_pathogenic | 0.8356 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.805 | 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.