Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC33854101785;101786;101787 chr2:178535055;178535054;178535053chr2:179399782;179399781;179399780
N2AB3221396862;96863;96864 chr2:178535055;178535054;178535053chr2:179399782;179399781;179399780
N2A3128694081;94082;94083 chr2:178535055;178535054;178535053chr2:179399782;179399781;179399780
N2B2478974590;74591;74592 chr2:178535055;178535054;178535053chr2:179399782;179399781;179399780
Novex-12491474965;74966;74967 chr2:178535055;178535054;178535053chr2:179399782;179399781;179399780
Novex-22498175166;75167;75168 chr2:178535055;178535054;178535053chr2:179399782;179399781;179399780
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGG
  • RefSeq wild type template codon: CCC
  • Domain: Kinase-1
  • Domain position: 42
  • Q(SASA): 0.3629
  • 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
G/R None None None N None 0.601 0.616200100714 gnomAD-4.0.0 6.84185E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99425E-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
G/A 0.6074 likely_pathogenic 0.5875 pathogenic -0.211 Destabilizing None None None None N 0.455249335 None None N
G/C 0.8715 likely_pathogenic 0.8394 pathogenic -0.886 Destabilizing None None None None None None None None N
G/D 0.8514 likely_pathogenic 0.7503 pathogenic -0.588 Destabilizing None None None None None None None None N
G/E 0.9006 likely_pathogenic 0.8389 pathogenic -0.754 Destabilizing None None None None N 0.451995599 None None N
G/F 0.9763 likely_pathogenic 0.9699 pathogenic -0.952 Destabilizing None None None None None None None None N
G/H 0.9681 likely_pathogenic 0.9482 pathogenic -0.378 Destabilizing None None None None None None None None N
G/I 0.9457 likely_pathogenic 0.9347 pathogenic -0.4 Destabilizing None None None None None None None None N
G/K 0.9724 likely_pathogenic 0.9548 pathogenic -0.769 Destabilizing None None None None None None None None N
G/L 0.9561 likely_pathogenic 0.9473 pathogenic -0.4 Destabilizing None None None None None None None None N
G/M 0.9616 likely_pathogenic 0.9486 pathogenic -0.497 Destabilizing None None None None None None None None N
G/N 0.8741 likely_pathogenic 0.7987 pathogenic -0.425 Destabilizing None None None None None None None None N
G/P 0.9903 likely_pathogenic 0.9841 pathogenic -0.306 Destabilizing None None None None None None None None N
G/Q 0.9512 likely_pathogenic 0.9223 pathogenic -0.715 Destabilizing None None None None None None None None N
G/R 0.9528 likely_pathogenic 0.929 pathogenic -0.3 Destabilizing None None None None N 0.456249412 None None N
G/S 0.609 likely_pathogenic 0.5068 ambiguous -0.559 Destabilizing None None None None None None None None N
G/T 0.8328 likely_pathogenic 0.7778 pathogenic -0.658 Destabilizing None None None None None None None None N
G/V 0.8782 likely_pathogenic 0.8595 pathogenic -0.306 Destabilizing None None None None N 0.47435517 None None N
G/W 0.9656 likely_pathogenic 0.9435 pathogenic -1.092 Destabilizing None None None None D 0.525053349 None None N
G/Y 0.9583 likely_pathogenic 0.9373 pathogenic -0.753 Destabilizing None None None None 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.