Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC624218949;18950;18951 chr2:178729432;178729431;178729430chr2:179594159;179594158;179594157
N2AB592517998;17999;18000 chr2:178729432;178729431;178729430chr2:179594159;179594158;179594157
N2A499815217;15218;15219 chr2:178729432;178729431;178729430chr2:179594159;179594158;179594157
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: AGC
  • RefSeq wild type template codon: TCG
  • Domain: Ig-46
  • Domain position: 44
  • Structural Position: 73
  • Q(SASA): 0.3509
  • 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/G None None 0.001 N 0.237 0.106 0.0806252709748 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 2.625E-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 0.1843 likely_benign 0.199 benign -0.483 Destabilizing 0.121 N 0.349 neutral None None None None N
S/C 0.1889 likely_benign 0.2524 benign -0.395 Destabilizing 0.976 D 0.42 neutral N 0.487526667 None None N
S/D 0.544 ambiguous 0.6806 pathogenic 0.467 Stabilizing 0.399 N 0.338 neutral None None None None N
S/E 0.8201 likely_pathogenic 0.8961 pathogenic 0.389 Stabilizing 0.574 D 0.333 neutral None None None None N
S/F 0.6776 likely_pathogenic 0.7024 pathogenic -1.109 Destabilizing 0.935 D 0.511 neutral None None None None N
S/G 0.0609 likely_benign 0.0781 benign -0.591 Destabilizing 0.001 N 0.237 neutral N 0.440836377 None None N
S/H 0.6289 likely_pathogenic 0.7025 pathogenic -1.003 Destabilizing 0.982 D 0.377 neutral None None None None N
S/I 0.5241 ambiguous 0.613 pathogenic -0.326 Destabilizing 0.781 D 0.49 neutral N 0.487273177 None None N
S/K 0.9079 likely_pathogenic 0.9479 pathogenic -0.359 Destabilizing 0.399 N 0.354 neutral None None None None N
S/L 0.3255 likely_benign 0.3378 benign -0.326 Destabilizing 0.826 D 0.433 neutral None None None None N
S/M 0.4947 ambiguous 0.5255 ambiguous -0.213 Destabilizing 0.982 D 0.395 neutral None None None None N
S/N 0.2002 likely_benign 0.2635 benign -0.197 Destabilizing 0.334 N 0.383 neutral N 0.488630324 None None N
S/P 0.8127 likely_pathogenic 0.8235 pathogenic -0.35 Destabilizing 0.826 D 0.355 neutral None None None None N
S/Q 0.775 likely_pathogenic 0.8465 pathogenic -0.359 Destabilizing 0.826 D 0.325 neutral None None None None N
S/R 0.8627 likely_pathogenic 0.9126 pathogenic -0.212 Destabilizing 0.781 D 0.353 neutral N 0.466838291 None None N
S/T 0.1293 likely_benign 0.1532 benign -0.311 Destabilizing 0.334 N 0.364 neutral N 0.50046347 None None N
S/V 0.4829 ambiguous 0.5722 pathogenic -0.35 Destabilizing 0.826 D 0.471 neutral None None None None N
S/W 0.7218 likely_pathogenic 0.7487 pathogenic -1.122 Destabilizing 0.982 D 0.634 neutral None None None None N
S/Y 0.567 likely_pathogenic 0.6252 pathogenic -0.828 Destabilizing 0.935 D 0.504 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.