Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3006490415;90416;90417 chr2:178552710;178552709;178552708chr2:179417437;179417436;179417435
N2AB2842385492;85493;85494 chr2:178552710;178552709;178552708chr2:179417437;179417436;179417435
N2A2749682711;82712;82713 chr2:178552710;178552709;178552708chr2:179417437;179417436;179417435
N2B2099963220;63221;63222 chr2:178552710;178552709;178552708chr2:179417437;179417436;179417435
Novex-12112463595;63596;63597 chr2:178552710;178552709;178552708chr2:179417437;179417436;179417435
Novex-22119163796;63797;63798 chr2:178552710;178552709;178552708chr2:179417437;179417436;179417435
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: E
  • RefSeq wild type transcript codon: GAA
  • RefSeq wild type template codon: CTT
  • Domain: Fn3-107
  • Domain position: 35
  • Structural Position: 37
  • Q(SASA): 0.2767
  • Predicted PPI site: N

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
E/Q rs866186866 -0.807 0.22 N 0.528 0.213 0.239305524855 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 4.64E-05 0 0
E/Q rs866186866 -0.807 0.22 N 0.528 0.213 0.239305524855 gnomAD-4.0.0 1.59103E-06 None None None None N None 0 0 None 0 0 None 1.88246E-05 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
E/A 0.1577 likely_benign 0.1427 benign -0.858 Destabilizing 0.22 N 0.612 neutral N 0.452621956 None None N
E/C 0.7932 likely_pathogenic 0.7723 pathogenic -0.428 Destabilizing 0.968 D 0.799 deleterious None None None None N
E/D 0.0628 likely_benign 0.0665 benign -0.995 Destabilizing None N 0.144 neutral N 0.430977247 None None N
E/F 0.8425 likely_pathogenic 0.8051 pathogenic -0.059 Destabilizing 0.89 D 0.798 deleterious None None None None N
E/G 0.1184 likely_benign 0.1154 benign -1.268 Destabilizing 0.22 N 0.673 neutral N 0.318032957 None None N
E/H 0.4113 ambiguous 0.3802 ambiguous -0.331 Destabilizing 0.726 D 0.507 neutral None None None None N
E/I 0.7123 likely_pathogenic 0.6495 pathogenic 0.275 Stabilizing 0.726 D 0.799 deleterious None None None None N
E/K 0.3395 likely_benign 0.294 benign -0.494 Destabilizing 0.22 N 0.515 neutral N 0.445039836 None None N
E/L 0.6575 likely_pathogenic 0.6006 pathogenic 0.275 Stabilizing 0.567 D 0.764 deleterious None None None None N
E/M 0.6556 likely_pathogenic 0.6076 pathogenic 0.725 Stabilizing 0.968 D 0.745 deleterious None None None None N
E/N 0.1518 likely_benign 0.1513 benign -1.082 Destabilizing 0.157 N 0.509 neutral None None None None N
E/P 0.97 likely_pathogenic 0.9621 pathogenic -0.081 Destabilizing 0.726 D 0.689 prob.neutral None None None None N
E/Q 0.1814 likely_benign 0.1636 benign -0.905 Destabilizing 0.22 N 0.528 neutral N 0.469764922 None None N
E/R 0.4645 ambiguous 0.4203 ambiguous -0.223 Destabilizing 0.567 D 0.518 neutral None None None None N
E/S 0.122 likely_benign 0.1221 benign -1.46 Destabilizing 0.157 N 0.508 neutral None None None None N
E/T 0.3092 likely_benign 0.2699 benign -1.103 Destabilizing 0.272 N 0.649 neutral None None None None N
E/V 0.5012 ambiguous 0.4382 ambiguous -0.081 Destabilizing 0.667 D 0.687 prob.neutral N 0.466431261 None None N
E/W 0.9291 likely_pathogenic 0.9103 pathogenic 0.265 Stabilizing 0.968 D 0.754 deleterious None None None None N
E/Y 0.6286 likely_pathogenic 0.5851 pathogenic 0.237 Stabilizing 0.89 D 0.762 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.