Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2828585078;85079;85080 chr2:178561279;178561278;178561277chr2:179426006;179426005;179426004
N2AB2664480155;80156;80157 chr2:178561279;178561278;178561277chr2:179426006;179426005;179426004
N2A2571777374;77375;77376 chr2:178561279;178561278;178561277chr2:179426006;179426005;179426004
N2B1922057883;57884;57885 chr2:178561279;178561278;178561277chr2:179426006;179426005;179426004
Novex-11934558258;58259;58260 chr2:178561279;178561278;178561277chr2:179426006;179426005;179426004
Novex-21941258459;58460;58461 chr2:178561279;178561278;178561277chr2:179426006;179426005;179426004
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACA
  • RefSeq wild type template codon: TGT
  • Domain: Fn3-94
  • Domain position: 34
  • Structural Position: 36
  • Q(SASA): 0.5432
  • Predicted PPI site: I

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
T/I None None 0.976 N 0.664 0.378 0.336647302497 gnomAD-4.0.0 1.59127E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85804E-06 0 0
T/S rs577272800 -0.49 0.979 N 0.415 0.31 0.236890367714 gnomAD-2.1.1 4.02E-06 None None None None I None 6.46E-05 0 None 0 0 None 0 None 0 0 0
T/S rs577272800 -0.49 0.979 N 0.415 0.31 0.236890367714 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
T/S rs577272800 -0.49 0.979 N 0.415 0.31 0.236890367714 1000 genomes 1.99681E-04 None None None None I None 8E-04 0 None None 0 0 None None None 0 None
T/S rs577272800 -0.49 0.979 N 0.415 0.31 0.236890367714 gnomAD-4.0.0 6.56659E-06 None None None None I None 2.40535E-05 0 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
T/A 0.1607 likely_benign 0.1867 benign -0.743 Destabilizing 0.958 D 0.422 neutral N 0.499187185 None None I
T/C 0.5572 ambiguous 0.6136 pathogenic -0.522 Destabilizing 1.0 D 0.733 prob.delet. None None None None I
T/D 0.7938 likely_pathogenic 0.8248 pathogenic -0.762 Destabilizing 0.998 D 0.768 deleterious None None None None I
T/E 0.6947 likely_pathogenic 0.7243 pathogenic -0.782 Destabilizing 0.995 D 0.763 deleterious None None None None I
T/F 0.5467 ambiguous 0.5958 pathogenic -0.962 Destabilizing 0.991 D 0.824 deleterious None None None None I
T/G 0.511 ambiguous 0.5809 pathogenic -0.968 Destabilizing 0.995 D 0.691 prob.neutral None None None None I
T/H 0.5525 ambiguous 0.5957 pathogenic -1.343 Destabilizing 1.0 D 0.795 deleterious None None None None I
T/I 0.2154 likely_benign 0.2309 benign -0.24 Destabilizing 0.976 D 0.664 neutral N 0.506208512 None None I
T/K 0.4648 ambiguous 0.4652 ambiguous -0.803 Destabilizing 0.994 D 0.739 prob.delet. N 0.485184306 None None I
T/L 0.1636 likely_benign 0.1759 benign -0.24 Destabilizing 0.086 N 0.315 neutral None None None None I
T/M 0.1317 likely_benign 0.1419 benign 0.209 Stabilizing 0.998 D 0.765 deleterious None None None None I
T/N 0.2964 likely_benign 0.3521 ambiguous -0.771 Destabilizing 0.998 D 0.657 neutral None None None None I
T/P 0.6472 likely_pathogenic 0.6881 pathogenic -0.377 Destabilizing 0.998 D 0.778 deleterious D 0.533055518 None None I
T/Q 0.4821 ambiguous 0.513 ambiguous -1.052 Destabilizing 0.998 D 0.788 deleterious None None None None I
T/R 0.3903 ambiguous 0.3984 ambiguous -0.478 Destabilizing 0.994 D 0.777 deleterious N 0.489894794 None None I
T/S 0.1974 likely_benign 0.2302 benign -0.957 Destabilizing 0.979 D 0.415 neutral N 0.46805433 None None I
T/V 0.1605 likely_benign 0.1726 benign -0.377 Destabilizing 0.938 D 0.425 neutral None None None None I
T/W 0.8377 likely_pathogenic 0.8618 pathogenic -0.904 Destabilizing 1.0 D 0.803 deleterious None None None None I
T/Y 0.6135 likely_pathogenic 0.6601 pathogenic -0.653 Destabilizing 0.995 D 0.829 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.