Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3235797294;97295;97296 chr2:178542785;178542784;178542783chr2:179407512;179407511;179407510
N2AB3071692371;92372;92373 chr2:178542785;178542784;178542783chr2:179407512;179407511;179407510
N2A2978989590;89591;89592 chr2:178542785;178542784;178542783chr2:179407512;179407511;179407510
N2B2329270099;70100;70101 chr2:178542785;178542784;178542783chr2:179407512;179407511;179407510
Novex-12341770474;70475;70476 chr2:178542785;178542784;178542783chr2:179407512;179407511;179407510
Novex-22348470675;70676;70677 chr2:178542785;178542784;178542783chr2:179407512;179407511;179407510
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACT
  • RefSeq wild type template codon: TGA
  • Domain: Ig-154
  • Domain position: 51
  • Structural Position: 127
  • Q(SASA): 0.6733
  • 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
T/I rs375538626 0.187 0.998 N 0.773 0.348 0.487064551306 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 1.67038E-04 None 0 None 0 8.91E-06 0
T/I rs375538626 0.187 0.998 N 0.773 0.348 0.487064551306 gnomAD-4.0.0 7.52626E-06 None None None None N None 0 0 None 0 2.77106E-04 None 0 0 0 0 0
T/S rs375538626 -0.433 0.775 N 0.349 0.278 0.18274738541 gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
T/S rs375538626 -0.433 0.775 N 0.349 0.278 0.18274738541 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
T/S rs375538626 -0.433 0.775 N 0.349 0.278 0.18274738541 gnomAD-4.0.0 6.19706E-06 None None None None N None 0 0 None 0 0 None 0 0 8.4761E-06 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 0.1137 likely_benign 0.0969 benign -0.598 Destabilizing 0.948 D 0.605 neutral N 0.448843437 None None N
T/C 0.4298 ambiguous 0.366 ambiguous -0.29 Destabilizing 1.0 D 0.737 prob.delet. None None None None N
T/D 0.4767 ambiguous 0.4133 ambiguous -0.207 Destabilizing 0.998 D 0.737 prob.delet. None None None None N
T/E 0.4426 ambiguous 0.379 ambiguous -0.239 Destabilizing 0.998 D 0.743 deleterious None None None None N
T/F 0.2853 likely_benign 0.2337 benign -0.749 Destabilizing 1.0 D 0.784 deleterious None None None None N
T/G 0.2561 likely_benign 0.2182 benign -0.823 Destabilizing 0.992 D 0.714 prob.delet. None None None None N
T/H 0.296 likely_benign 0.2462 benign -1.144 Destabilizing 1.0 D 0.777 deleterious None None None None N
T/I 0.1991 likely_benign 0.1619 benign -0.1 Destabilizing 0.998 D 0.773 deleterious N 0.479590419 None None N
T/K 0.2959 likely_benign 0.2525 benign -0.739 Destabilizing 0.998 D 0.743 deleterious None None None None N
T/L 0.1183 likely_benign 0.1031 benign -0.1 Destabilizing 0.996 D 0.721 prob.delet. None None None None N
T/M 0.0906 likely_benign 0.0836 benign 0.149 Stabilizing 1.0 D 0.74 deleterious None None None None N
T/N 0.109 likely_benign 0.0983 benign -0.513 Destabilizing 0.997 D 0.725 prob.delet. N 0.442186824 None None N
T/P 0.1801 likely_benign 0.1564 benign -0.234 Destabilizing 0.998 D 0.77 deleterious N 0.471317652 None None N
T/Q 0.2799 likely_benign 0.2446 benign -0.704 Destabilizing 0.999 D 0.759 deleterious None None None None N
T/R 0.25 likely_benign 0.2136 benign -0.472 Destabilizing 0.999 D 0.77 deleterious None None None None N
T/S 0.1254 likely_benign 0.108 benign -0.725 Destabilizing 0.775 D 0.349 neutral N 0.422062268 None None N
T/V 0.1758 likely_benign 0.1429 benign -0.234 Destabilizing 0.996 D 0.709 prob.delet. None None None None N
T/W 0.5976 likely_pathogenic 0.5511 ambiguous -0.726 Destabilizing 1.0 D 0.745 deleterious None None None None N
T/Y 0.2591 likely_benign 0.2303 benign -0.501 Destabilizing 1.0 D 0.783 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.