Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2289768914;68915;68916 chr2:178577737;178577736;178577735chr2:179442464;179442463;179442462
N2AB2125663991;63992;63993 chr2:178577737;178577736;178577735chr2:179442464;179442463;179442462
N2A2032961210;61211;61212 chr2:178577737;178577736;178577735chr2:179442464;179442463;179442462
N2B1383241719;41720;41721 chr2:178577737;178577736;178577735chr2:179442464;179442463;179442462
Novex-11395742094;42095;42096 chr2:178577737;178577736;178577735chr2:179442464;179442463;179442462
Novex-21402442295;42296;42297 chr2:178577737;178577736;178577735chr2:179442464;179442463;179442462
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: P
  • RefSeq wild type transcript codon: CCA
  • RefSeq wild type template codon: GGT
  • Domain: Fn3-54
  • Domain position: 57
  • Structural Position: 83
  • Q(SASA): 0.4578
  • 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
P/S rs749642221 -0.842 0.101 N 0.265 0.125 0.173771789658 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.94E-06 0
P/S rs749642221 -0.842 0.101 N 0.265 0.125 0.173771789658 gnomAD-4.0.0 1.36876E-06 None None None None I None 2.989E-05 0 None 0 0 None 0 0 8.99607E-07 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
P/A 0.0794 likely_benign 0.0895 benign -0.939 Destabilizing 0.047 N 0.241 neutral N 0.497511671 None None I
P/C 0.4983 ambiguous 0.5896 pathogenic -0.7 Destabilizing 0.983 D 0.305 neutral None None None None I
P/D 0.4704 ambiguous 0.5416 ambiguous -0.529 Destabilizing 0.228 N 0.252 neutral None None None None I
P/E 0.278 likely_benign 0.3216 benign -0.603 Destabilizing 0.129 N 0.276 neutral None None None None I
P/F 0.4517 ambiguous 0.5484 ambiguous -0.902 Destabilizing 0.716 D 0.39 neutral None None None None I
P/G 0.2682 likely_benign 0.3185 benign -1.149 Destabilizing 0.228 N 0.227 neutral None None None None I
P/H 0.2034 likely_benign 0.2428 benign -0.607 Destabilizing 0.002 N 0.221 neutral None None None None I
P/I 0.2396 likely_benign 0.2945 benign -0.507 Destabilizing 0.264 N 0.315 neutral None None None None I
P/K 0.2787 likely_benign 0.3262 benign -0.742 Destabilizing 0.129 N 0.289 neutral None None None None I
P/L 0.0988 likely_benign 0.11 benign -0.507 Destabilizing 0.001 N 0.297 neutral N 0.460129505 None None I
P/M 0.2155 likely_benign 0.2516 benign -0.444 Destabilizing 0.716 D 0.321 neutral None None None None I
P/N 0.2627 likely_benign 0.306 benign -0.458 Destabilizing 0.418 N 0.24 neutral None None None None I
P/Q 0.1381 likely_benign 0.1513 benign -0.689 Destabilizing 0.001 N 0.145 neutral N 0.44262118 None None I
P/R 0.2081 likely_benign 0.2547 benign -0.177 Destabilizing 0.213 N 0.241 neutral N 0.485814597 None None I
P/S 0.1089 likely_benign 0.1224 benign -0.907 Destabilizing 0.101 N 0.265 neutral N 0.424493992 None None I
P/T 0.0857 likely_benign 0.0921 benign -0.874 Destabilizing 0.001 N 0.183 neutral N 0.444274619 None None I
P/V 0.1658 likely_benign 0.2038 benign -0.615 Destabilizing 0.129 N 0.244 neutral None None None None I
P/W 0.5952 likely_pathogenic 0.7139 pathogenic -0.983 Destabilizing 0.983 D 0.325 neutral None None None None I
P/Y 0.4331 ambiguous 0.5445 ambiguous -0.706 Destabilizing 0.418 N 0.38 neutral 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.