Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3061192056;92057;92058 chr2:178550007;178550006;178550005chr2:179414734;179414733;179414732
N2AB2897087133;87134;87135 chr2:178550007;178550006;178550005chr2:179414734;179414733;179414732
N2A2804384352;84353;84354 chr2:178550007;178550006;178550005chr2:179414734;179414733;179414732
N2B2154664861;64862;64863 chr2:178550007;178550006;178550005chr2:179414734;179414733;179414732
Novex-12167165236;65237;65238 chr2:178550007;178550006;178550005chr2:179414734;179414733;179414732
Novex-22173865437;65438;65439 chr2:178550007;178550006;178550005chr2:179414734;179414733;179414732
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: E
  • RefSeq wild type transcript codon: GAA
  • RefSeq wild type template codon: CTT
  • Domain: Ig-149
  • Domain position: 80
  • Structural Position: 171
  • Q(SASA): 0.2834
  • 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
E/A None None 0.027 N 0.457 0.24 0.281381271821 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
E/K rs769702560 -0.068 0.027 N 0.367 0.137 0.241664281697 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 3.34E-05 None 0 0 0
E/K rs769702560 -0.068 0.027 N 0.367 0.137 0.241664281697 gnomAD-4.0.0 1.37352E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.33465E-05 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
E/A 0.1115 likely_benign 0.1228 benign -0.388 Destabilizing 0.027 N 0.457 neutral N 0.441322819 None None N
E/C 0.6421 likely_pathogenic 0.6927 pathogenic -0.14 Destabilizing 0.935 D 0.625 neutral None None None None N
E/D 0.0743 likely_benign 0.0891 benign -0.404 Destabilizing None N 0.122 neutral N 0.437821154 None None N
E/F 0.5653 likely_pathogenic 0.6508 pathogenic -0.188 Destabilizing 0.791 D 0.606 neutral None None None None N
E/G 0.1346 likely_benign 0.1539 benign -0.606 Destabilizing 0.052 N 0.525 neutral D 0.524074702 None None N
E/H 0.3042 likely_benign 0.3461 ambiguous 0.021 Stabilizing 0.555 D 0.529 neutral None None None None N
E/I 0.2201 likely_benign 0.256 benign 0.159 Stabilizing 0.555 D 0.621 neutral None None None None N
E/K 0.1379 likely_benign 0.1419 benign 0.207 Stabilizing 0.027 N 0.367 neutral N 0.484129447 None None N
E/L 0.2831 likely_benign 0.331 benign 0.159 Stabilizing 0.149 N 0.63 neutral None None None None N
E/M 0.3111 likely_benign 0.3526 ambiguous 0.204 Stabilizing 0.824 D 0.585 neutral None None None None N
E/N 0.1196 likely_benign 0.16 benign -0.147 Destabilizing 0.081 N 0.327 neutral None None None None N
E/P 0.4853 ambiguous 0.5382 ambiguous -0.002 Destabilizing 0.262 N 0.583 neutral None None None None N
E/Q 0.1127 likely_benign 0.1142 benign -0.094 Destabilizing 0.002 N 0.201 neutral N 0.471472368 None None N
E/R 0.2305 likely_benign 0.242 benign 0.455 Stabilizing 0.081 N 0.477 neutral None None None None N
E/S 0.111 likely_benign 0.1339 benign -0.312 Destabilizing 0.035 N 0.375 neutral None None None None N
E/T 0.1169 likely_benign 0.1328 benign -0.135 Destabilizing 0.149 N 0.504 neutral None None None None N
E/V 0.1393 likely_benign 0.1545 benign -0.002 Destabilizing 0.117 N 0.619 neutral N 0.474686031 None None N
E/W 0.8044 likely_pathogenic 0.8472 pathogenic -0.023 Destabilizing 0.935 D 0.669 neutral None None None None N
E/Y 0.4457 ambiguous 0.5106 ambiguous 0.054 Stabilizing 0.555 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.