Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC578317572;17573;17574 chr2:178731419;178731418;178731417chr2:179596146;179596145;179596144
N2AB546616621;16622;16623 chr2:178731419;178731418;178731417chr2:179596146;179596145;179596144
N2A453913840;13841;13842 chr2:178731419;178731418;178731417chr2:179596146;179596145;179596144
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: N
  • RefSeq wild type transcript codon: AAT
  • RefSeq wild type template codon: TTA
  • Domain: Ig-41
  • Domain position: 54
  • Structural Position: 134
  • Q(SASA): 0.3767
  • 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
N/I None None 0.998 N 0.775 0.564 0.671502058982 gnomAD-4.0.0 6.84202E-07 None None None None N None 0 0 None 0 0 None 1.87259E-05 0 0 0 0
N/S None None 0.961 D 0.553 0.26 0.330589388543 gnomAD-4.0.0 2.05261E-06 None None None None N None 2.98846E-05 0 None 0 0 None 0 0 1.79892E-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
N/A 0.3977 ambiguous 0.3606 ambiguous -0.816 Destabilizing 0.97 D 0.673 neutral None None None None N
N/C 0.4891 ambiguous 0.451 ambiguous 0.008 Stabilizing 1.0 D 0.77 deleterious None None None None N
N/D 0.14 likely_benign 0.1326 benign -0.075 Destabilizing 0.961 D 0.581 neutral N 0.516780583 None None N
N/E 0.5055 ambiguous 0.4589 ambiguous 0.036 Stabilizing 0.942 D 0.563 neutral None None None None N
N/F 0.7686 likely_pathogenic 0.7416 pathogenic -0.69 Destabilizing 0.999 D 0.762 deleterious None None None None N
N/G 0.2835 likely_benign 0.2589 benign -1.148 Destabilizing 0.092 N 0.258 neutral None None None None N
N/H 0.1445 likely_benign 0.1351 benign -0.78 Destabilizing 0.994 D 0.634 neutral N 0.489455446 None None N
N/I 0.6599 likely_pathogenic 0.6226 pathogenic 0.025 Stabilizing 0.998 D 0.775 deleterious N 0.493494371 None None N
N/K 0.4199 ambiguous 0.3651 ambiguous 0.028 Stabilizing 0.925 D 0.589 neutral N 0.490541402 None None N
N/L 0.5059 ambiguous 0.4735 ambiguous 0.025 Stabilizing 0.991 D 0.715 prob.delet. None None None None N
N/M 0.5705 likely_pathogenic 0.5239 ambiguous 0.266 Stabilizing 1.0 D 0.751 deleterious None None None None N
N/P 0.9081 likely_pathogenic 0.8938 pathogenic -0.226 Destabilizing 0.999 D 0.764 deleterious None None None None N
N/Q 0.4027 ambiguous 0.362 ambiguous -0.531 Destabilizing 0.746 D 0.243 neutral None None None None N
N/R 0.4194 ambiguous 0.3632 ambiguous -0.04 Destabilizing 0.991 D 0.617 neutral None None None None N
N/S 0.1072 likely_benign 0.1055 benign -0.714 Destabilizing 0.961 D 0.553 neutral D 0.532038037 None None N
N/T 0.272 likely_benign 0.2468 benign -0.393 Destabilizing 0.98 D 0.597 neutral D 0.524458704 None None N
N/V 0.6256 likely_pathogenic 0.5874 pathogenic -0.226 Destabilizing 0.996 D 0.763 deleterious None None None None N
N/W 0.8912 likely_pathogenic 0.8651 pathogenic -0.474 Destabilizing 1.0 D 0.725 prob.delet. None None None None N
N/Y 0.2961 likely_benign 0.2706 benign -0.229 Destabilizing 0.998 D 0.762 deleterious D 0.533598262 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.