Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33467 | 100624;100625;100626 | chr2:178536348;178536347;178536346 | chr2:179401075;179401074;179401073 |
| N2AB | 31826 | 95701;95702;95703 | chr2:178536348;178536347;178536346 | chr2:179401075;179401074;179401073 |
| N2A | 30899 | 92920;92921;92922 | chr2:178536348;178536347;178536346 | chr2:179401075;179401074;179401073 |
| N2B | 24402 | 73429;73430;73431 | chr2:178536348;178536347;178536346 | chr2:179401075;179401074;179401073 |
| Novex-1 | 24527 | 73804;73805;73806 | chr2:178536348;178536347;178536346 | chr2:179401075;179401074;179401073 |
| Novex-2 | 24594 | 74005;74006;74007 | chr2:178536348;178536347;178536346 | chr2:179401075;179401074;179401073 |
| 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/G | rs200166942  |
-3.643 | 1.0 | D | 0.867 | 0.861 | None | gnomAD-2.1.1 | 3.07187E-04 | None | None | None | None | N | None | 1.24028E-04 | 1.7001E-04 | None | 6.76721E-04 | 0 | None | 0 | None | 0 | 5.39197E-04 | 1.40726E-04 |
| V/G | rs200166942 |
-3.643 | 1.0 | D | 0.867 | 0.861 | None | gnomAD-3.1.2 | 4.40129E-04 | None | None | None | None | N | None | 7.24E-05 | 8.50674E-04 | 0 | 5.76037E-04 | 0 | None | 0 | 0 | 6.90831E-04 | 0 | 9.56023E-04 |
| V/G | rs200166942 |
-3.643 | 1.0 | D | 0.867 | 0.861 | None | 1000 genomes | 7.98722E-04 | None | None | None | None | N | None | 0 | 2.9E-03 | None | None | 0 | 2E-03 | None | None | None | 0 | None |
| V/G | rs200166942 |
-3.643 | 1.0 | D | 0.867 | 0.861 | None | gnomAD-4.0.0 | 5.33519E-04 | None | None | None | None | N | None | 3.99744E-05 | 3.49965E-04 | None | 7.76975E-04 | 0 | None | 0 | 6.59848E-04 | 6.59437E-04 | 0 | 5.12197E-04 |
| V/L | None | None | 0.997 | N | 0.703 | 0.647 | 0.648148160414 | gnomAD-4.0.0 | 1.5915E-06 | None | None | None | None | N | None | 0 | 2.28739E-05 | None | 0 | 0 | None | 0 | 0 | 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 | 0.795 | likely_pathogenic | 0.8278 | pathogenic | -2.717 | Highly Destabilizing | 0.999 | D | 0.678 | prob.neutral | D | 0.536021028 | None | None | N |
| V/C | 0.9499 | likely_pathogenic | 0.9467 | pathogenic | -1.902 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/D | 0.9963 | likely_pathogenic | 0.9979 | pathogenic | -3.157 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/E | 0.9884 | likely_pathogenic | 0.9932 | pathogenic | -2.857 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.63018016 | None | None | N |
| V/F | 0.927 | likely_pathogenic | 0.9562 | pathogenic | -1.396 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/G | 0.8607 | likely_pathogenic | 0.9044 | pathogenic | -3.249 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.63018016 | None | None | N |
| V/H | 0.9983 | likely_pathogenic | 0.9989 | pathogenic | -2.857 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/I | 0.1515 | likely_benign | 0.1428 | benign | -1.127 | Destabilizing | 0.998 | D | 0.64 | neutral | None | None | None | None | N |
| V/K | 0.994 | likely_pathogenic | 0.9967 | pathogenic | -1.982 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/L | 0.7948 | likely_pathogenic | 0.8043 | pathogenic | -1.127 | Destabilizing | 0.997 | D | 0.703 | prob.neutral | N | 0.51106301 | None | None | N |
| V/M | 0.8347 | likely_pathogenic | 0.8461 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.568368424 | None | None | N |
| V/N | 0.9851 | likely_pathogenic | 0.9894 | pathogenic | -2.623 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/P | 0.995 | likely_pathogenic | 0.9973 | pathogenic | -1.647 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/Q | 0.9898 | likely_pathogenic | 0.9931 | pathogenic | -2.267 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/R | 0.9875 | likely_pathogenic | 0.9932 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/S | 0.9299 | likely_pathogenic | 0.9449 | pathogenic | -3.057 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| V/T | 0.8605 | likely_pathogenic | 0.8646 | pathogenic | -2.621 | Highly Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/W | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| V/Y | 0.9925 | likely_pathogenic | 0.9954 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.803 | 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.