Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC35476106651;106652;106653 chr2:178530065;178530064;178530063chr2:179394792;179394791;179394790
N2AB33835101728;101729;101730 chr2:178530065;178530064;178530063chr2:179394792;179394791;179394790
N2A3290898947;98948;98949 chr2:178530065;178530064;178530063chr2:179394792;179394791;179394790
N2B2641179456;79457;79458 chr2:178530065;178530064;178530063chr2:179394792;179394791;179394790
Novex-12653679831;79832;79833 chr2:178530065;178530064;178530063chr2:179394792;179394791;179394790
Novex-22660380032;80033;80034 chr2:178530065;178530064;178530063chr2:179394792;179394791;179394790
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: F
  • RefSeq wild type transcript codon: TTC
  • RefSeq wild type template codon: AAG
  • Domain: Ig-166
  • Domain position: 57
  • Structural Position: 137
  • Q(SASA): 0.3029
  • 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
F/L None None None N 0.166 0.134 0.287603790349 gnomAD-4.0.0 1.59697E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86261E-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
F/A 0.1608 likely_benign 0.1577 benign -2.338 Highly Destabilizing None N 0.424 neutral None None None None N
F/C 0.1625 likely_benign 0.1552 benign -1.029 Destabilizing 0.043 N 0.591 neutral N 0.480841212 None None N
F/D 0.3255 likely_benign 0.3372 benign -1.298 Destabilizing 0.003 N 0.469 neutral None None None None N
F/E 0.3739 ambiguous 0.3755 ambiguous -1.207 Destabilizing 0.003 N 0.424 neutral None None None None N
F/G 0.3369 likely_benign 0.3427 ambiguous -2.684 Highly Destabilizing 0.001 N 0.418 neutral None None None None N
F/H 0.1729 likely_benign 0.1687 benign -0.951 Destabilizing None N 0.252 neutral None None None None N
F/I 0.0561 likely_benign 0.0563 benign -1.283 Destabilizing None N 0.148 neutral N 0.43048975 None None N
F/K 0.3492 ambiguous 0.358 ambiguous -1.079 Destabilizing 0.003 N 0.434 neutral None None None None N
F/L 0.1447 likely_benign 0.1414 benign -1.283 Destabilizing None N 0.166 neutral N 0.438493158 None None N
F/M 0.1553 likely_benign 0.1554 benign -0.911 Destabilizing 0.004 N 0.437 neutral None None None None N
F/N 0.1885 likely_benign 0.1916 benign -1.088 Destabilizing 0.002 N 0.476 neutral None None None None N
F/P 0.8236 likely_pathogenic 0.8337 pathogenic -1.631 Destabilizing None N 0.483 neutral None None None None N
F/Q 0.2353 likely_benign 0.2314 benign -1.221 Destabilizing 0.008 N 0.604 neutral None None None None N
F/R 0.2153 likely_benign 0.2197 benign -0.402 Destabilizing 0.003 N 0.528 neutral None None None None N
F/S 0.1035 likely_benign 0.1024 benign -1.889 Destabilizing 0.001 N 0.429 neutral N 0.359568227 None None N
F/T 0.1223 likely_benign 0.12 benign -1.708 Destabilizing None N 0.357 neutral None None None None N
F/V 0.0646 likely_benign 0.0638 benign -1.631 Destabilizing None N 0.25 neutral N 0.425025215 None None N
F/W 0.2031 likely_benign 0.2045 benign -0.387 Destabilizing 0.056 N 0.429 neutral None None None None N
F/Y 0.0984 likely_benign 0.0998 benign -0.601 Destabilizing None N 0.135 neutral N 0.466757194 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.