Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC668420275;20276;20277 chr2:178727315;178727314;178727313chr2:179592042;179592041;179592040
N2AB636719324;19325;19326 chr2:178727315;178727314;178727313chr2:179592042;179592041;179592040
N2A544016543;16544;16545 chr2:178727315;178727314;178727313chr2:179592042;179592041;179592040
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: S
  • RefSeq wild type transcript codon: TCT
  • RefSeq wild type template codon: AGA
  • Domain: Ig-51
  • Domain position: 18
  • Structural Position: 26
  • Q(SASA): 0.3738
  • 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
S/Y None None 0.999 N 0.706 0.376 0.503186968135 gnomAD-4.0.0 1.59571E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86589E-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
S/A 0.0772 likely_benign 0.0735 benign -0.507 Destabilizing 0.948 D 0.405 neutral N 0.457061694 None None N
S/C 0.1777 likely_benign 0.1727 benign -0.246 Destabilizing 1.0 D 0.631 neutral N 0.501374506 None None N
S/D 0.3549 ambiguous 0.3475 ambiguous -0.205 Destabilizing 0.992 D 0.482 neutral None None None None N
S/E 0.5063 ambiguous 0.5036 ambiguous -0.277 Destabilizing 0.992 D 0.471 neutral None None None None N
S/F 0.1296 likely_benign 0.1189 benign -1.03 Destabilizing 0.999 D 0.705 prob.neutral N 0.501121017 None None N
S/G 0.1135 likely_benign 0.1142 benign -0.66 Destabilizing 0.992 D 0.402 neutral None None None None N
S/H 0.3203 likely_benign 0.3209 benign -1.243 Destabilizing 1.0 D 0.623 neutral None None None None N
S/I 0.1597 likely_benign 0.1508 benign -0.223 Destabilizing 0.999 D 0.711 prob.delet. None None None None N
S/K 0.6539 likely_pathogenic 0.6697 pathogenic -0.52 Destabilizing 0.992 D 0.485 neutral None None None None N
S/L 0.1035 likely_benign 0.0996 benign -0.223 Destabilizing 0.998 D 0.617 neutral None None None None N
S/M 0.214 likely_benign 0.2102 benign 0.25 Stabilizing 1.0 D 0.621 neutral None None None None N
S/N 0.1462 likely_benign 0.1451 benign -0.315 Destabilizing 0.997 D 0.503 neutral None None None None N
S/P 0.1727 likely_benign 0.1688 benign -0.287 Destabilizing 0.121 N 0.272 neutral N 0.455540757 None None N
S/Q 0.4748 ambiguous 0.4823 ambiguous -0.619 Destabilizing 0.999 D 0.601 neutral None None None None N
S/R 0.5505 ambiguous 0.5762 pathogenic -0.29 Destabilizing 0.999 D 0.658 neutral None None None None N
S/T 0.0865 likely_benign 0.0831 benign -0.391 Destabilizing 0.989 D 0.395 neutral N 0.470233777 None None N
S/V 0.1583 likely_benign 0.1536 benign -0.287 Destabilizing 0.998 D 0.624 neutral None None None None N
S/W 0.3156 likely_benign 0.3139 benign -1.002 Destabilizing 1.0 D 0.735 prob.delet. None None None None N
S/Y 0.1432 likely_benign 0.1366 benign -0.727 Destabilizing 0.999 D 0.706 prob.neutral N 0.478408406 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.