Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2288468875;68876;68877 chr2:178577776;178577775;178577774chr2:179442503;179442502;179442501
N2AB2124363952;63953;63954 chr2:178577776;178577775;178577774chr2:179442503;179442502;179442501
N2A2031661171;61172;61173 chr2:178577776;178577775;178577774chr2:179442503;179442502;179442501
N2B1381941680;41681;41682 chr2:178577776;178577775;178577774chr2:179442503;179442502;179442501
Novex-11394442055;42056;42057 chr2:178577776;178577775;178577774chr2:179442503;179442502;179442501
Novex-21401142256;42257;42258 chr2:178577776;178577775;178577774chr2:179442503;179442502;179442501
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: P
  • RefSeq wild type transcript codon: CCT
  • RefSeq wild type template codon: GGA
  • Domain: Fn3-54
  • Domain position: 44
  • Structural Position: 54
  • Q(SASA): 0.619
  • 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
P/L rs2046764979 None 0.942 N 0.439 0.298 0.521917627825 gnomAD-3.1.2 6.58E-06 None None None None N None 0 6.55E-05 0 0 0 None 0 0 0 0 0
P/L rs2046764979 None 0.942 N 0.439 0.298 0.521917627825 gnomAD-4.0.0 6.57774E-06 None None None None N None 0 6.55308E-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
P/A 0.1866 likely_benign 0.1673 benign -0.402 Destabilizing 0.058 N 0.306 neutral N 0.492158992 None None N
P/C 0.6956 likely_pathogenic 0.6749 pathogenic -0.858 Destabilizing 0.998 D 0.543 neutral None None None None N
P/D 0.4988 ambiguous 0.4557 ambiguous -0.368 Destabilizing 0.019 N 0.314 neutral None None None None N
P/E 0.4261 ambiguous 0.3831 ambiguous -0.477 Destabilizing 0.754 D 0.378 neutral None None None None N
P/F 0.7312 likely_pathogenic 0.685 pathogenic -0.734 Destabilizing 0.993 D 0.516 neutral None None None None N
P/G 0.3121 likely_benign 0.2973 benign -0.464 Destabilizing 0.008 N 0.263 neutral None None None None N
P/H 0.3572 ambiguous 0.318 benign -0.004 Destabilizing 0.997 D 0.499 neutral N 0.484255573 None None N
P/I 0.5631 ambiguous 0.5139 ambiguous -0.375 Destabilizing 0.978 D 0.507 neutral None None None None N
P/K 0.4871 ambiguous 0.4359 ambiguous -0.457 Destabilizing 0.956 D 0.358 neutral None None None None N
P/L 0.2778 likely_benign 0.2448 benign -0.375 Destabilizing 0.942 D 0.439 neutral N 0.473708961 None None N
P/M 0.5404 ambiguous 0.5019 ambiguous -0.649 Destabilizing 0.998 D 0.499 neutral None None None None N
P/N 0.4336 ambiguous 0.3976 ambiguous -0.286 Destabilizing 0.956 D 0.415 neutral None None None None N
P/Q 0.3046 likely_benign 0.28 benign -0.483 Destabilizing 0.978 D 0.403 neutral None None None None N
P/R 0.3783 ambiguous 0.3302 benign -0.004 Destabilizing 0.97 D 0.469 neutral N 0.520113598 None None N
P/S 0.2459 likely_benign 0.2171 benign -0.602 Destabilizing 0.698 D 0.343 neutral N 0.49660202 None None N
P/T 0.2114 likely_benign 0.1859 benign -0.62 Destabilizing 0.822 D 0.363 neutral N 0.514726421 None None N
P/V 0.4134 ambiguous 0.3718 ambiguous -0.357 Destabilizing 0.956 D 0.391 neutral None None None None N
P/W 0.8502 likely_pathogenic 0.8084 pathogenic -0.784 Destabilizing 0.998 D 0.617 neutral None None None None N
P/Y 0.6138 likely_pathogenic 0.5758 pathogenic -0.526 Destabilizing 0.993 D 0.515 neutral 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.