Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1539146396;46397;46398 chr2:178620350;178620349;178620348chr2:179485077;179485076;179485075
N2AB1375041473;41474;41475 chr2:178620350;178620349;178620348chr2:179485077;179485076;179485075
N2A1282338692;38693;38694 chr2:178620350;178620349;178620348chr2:179485077;179485076;179485075
N2B632619201;19202;19203 chr2:178620350;178620349;178620348chr2:179485077;179485076;179485075
Novex-1645119576;19577;19578 chr2:178620350;178620349;178620348chr2:179485077;179485076;179485075
Novex-2651819777;19778;19779 chr2:178620350;178620349;178620348chr2:179485077;179485076;179485075
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACA
  • RefSeq wild type template codon: TGT
  • Domain: Ig-106
  • Domain position: 1
  • Structural Position: 1
  • Q(SASA): 1.3468
  • 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 rs775807236 -0.019 0.993 D 0.571 0.558 0.593515057505 gnomAD-2.1.1 4.11E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.07E-06 0
T/I rs775807236 -0.019 0.993 D 0.571 0.558 0.593515057505 gnomAD-4.0.0 6.19711E-06 None None None None N None 0 0 None 0 0 None 0 7.01016E-04 2.71169E-06 0 3.33778E-05
T/R None None 0.997 D 0.547 0.553 0.65667953858 gnomAD-4.0.0 1.37714E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80779E-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 0.1003 likely_benign 0.1025 benign -0.556 Destabilizing 0.117 N 0.453 neutral D 0.532236292 None None N
T/C 0.6228 likely_pathogenic 0.6888 pathogenic -0.472 Destabilizing 1.0 D 0.589 neutral None None None None N
T/D 0.7344 likely_pathogenic 0.7938 pathogenic 0.151 Stabilizing 0.998 D 0.572 neutral None None None None N
T/E 0.6541 likely_pathogenic 0.702 pathogenic 0.146 Stabilizing 0.995 D 0.543 neutral None None None None N
T/F 0.6905 likely_pathogenic 0.7231 pathogenic -0.718 Destabilizing 0.998 D 0.603 neutral None None None None N
T/G 0.4476 ambiguous 0.5065 ambiguous -0.79 Destabilizing 0.966 D 0.515 neutral None None None None N
T/H 0.6988 likely_pathogenic 0.7544 pathogenic -0.995 Destabilizing 1.0 D 0.599 neutral None None None None N
T/I 0.3746 ambiguous 0.3939 ambiguous -0.035 Destabilizing 0.993 D 0.571 neutral D 0.548627519 None None N
T/K 0.6304 likely_pathogenic 0.6838 pathogenic -0.521 Destabilizing 0.993 D 0.541 neutral D 0.547913703 None None N
T/L 0.2292 likely_benign 0.2096 benign -0.035 Destabilizing 0.983 D 0.568 neutral None None None None N
T/M 0.2054 likely_benign 0.2044 benign -0.032 Destabilizing 1.0 D 0.588 neutral None None None None N
T/N 0.3772 ambiguous 0.452 ambiguous -0.456 Destabilizing 0.998 D 0.605 neutral None None None None N
T/P 0.2139 likely_benign 0.2058 benign -0.176 Destabilizing 0.997 D 0.563 neutral N 0.498552089 None None N
T/Q 0.5919 likely_pathogenic 0.6411 pathogenic -0.556 Destabilizing 0.998 D 0.569 neutral None None None None N
T/R 0.5701 likely_pathogenic 0.6122 pathogenic -0.329 Destabilizing 0.997 D 0.547 neutral D 0.547913703 None None N
T/S 0.2324 likely_benign 0.2666 benign -0.727 Destabilizing 0.955 D 0.582 neutral D 0.548292079 None None N
T/V 0.2135 likely_benign 0.2218 benign -0.176 Destabilizing 0.966 D 0.597 neutral None None None None N
T/W 0.8984 likely_pathogenic 0.9035 pathogenic -0.703 Destabilizing 1.0 D 0.659 neutral None None None None N
T/Y 0.71 likely_pathogenic 0.7308 pathogenic -0.432 Destabilizing 0.999 D 0.603 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.