Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC632019183;19184;19185 chr2:178729080;178729079;178729078chr2:179593807;179593806;179593805
N2AB600318232;18233;18234 chr2:178729080;178729079;178729078chr2:179593807;179593806;179593805
N2A507615451;15452;15453 chr2:178729080;178729079;178729078chr2:179593807;179593806;179593805
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: P
  • RefSeq wild type transcript codon: CCT
  • RefSeq wild type template codon: GGA
  • Domain: Ig-47
  • Domain position: 29
  • Structural Position: 43
  • Q(SASA): 0.7481
  • Predicted PPI site: I

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
P/H rs886246785 None 1.0 D 0.533 0.463 0.590966807702 gnomAD-3.1.2 1.97E-05 None None None None I None 7.24E-05 0 0 0 0 None 0 0 0 0 0
P/H rs886246785 None 1.0 D 0.533 0.463 0.590966807702 gnomAD-4.0.0 4.96173E-06 None None None None I None 1.06855E-04 0 None 0 0 None 0 0 0 0 0
P/L None None 0.961 N 0.503 0.355 0.682110513636 gnomAD-4.0.0 6.84815E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99878E-07 0 0
P/R None None 0.997 N 0.531 0.451 0.535774538982 gnomAD-4.0.0 2.05445E-06 None None None None I None 0 2.24638E-05 None 0 0 None 0 0 1.79976E-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
P/A 0.1719 likely_benign 0.1453 benign -0.45 Destabilizing 0.953 D 0.415 neutral N 0.494073347 None None I
P/C 0.7382 likely_pathogenic 0.7372 pathogenic -0.656 Destabilizing 1.0 D 0.553 neutral None None None None I
P/D 0.5276 ambiguous 0.5036 ambiguous -0.34 Destabilizing 0.998 D 0.394 neutral None None None None I
P/E 0.3947 ambiguous 0.3666 ambiguous -0.461 Destabilizing 0.993 D 0.413 neutral None None None None I
P/F 0.7066 likely_pathogenic 0.6847 pathogenic -0.731 Destabilizing 0.998 D 0.55 neutral None None None None I
P/G 0.4978 ambiguous 0.4642 ambiguous -0.56 Destabilizing 0.993 D 0.507 neutral None None None None I
P/H 0.3756 ambiguous 0.3431 ambiguous -0.177 Destabilizing 1.0 D 0.533 neutral D 0.52234582 None None I
P/I 0.513 ambiguous 0.4888 ambiguous -0.31 Destabilizing 0.971 D 0.524 neutral None None None None I
P/K 0.5063 ambiguous 0.4511 ambiguous -0.462 Destabilizing 0.993 D 0.41 neutral None None None None I
P/L 0.2778 likely_benign 0.2529 benign -0.31 Destabilizing 0.961 D 0.503 neutral N 0.495087306 None None I
P/M 0.5254 ambiguous 0.5017 ambiguous -0.418 Destabilizing 0.998 D 0.527 neutral None None None None I
P/N 0.4561 ambiguous 0.4375 ambiguous -0.191 Destabilizing 0.998 D 0.511 neutral None None None None I
P/Q 0.3056 likely_benign 0.2692 benign -0.436 Destabilizing 0.999 D 0.413 neutral None None None None I
P/R 0.358 ambiguous 0.3053 benign 0.042 Stabilizing 0.997 D 0.531 neutral N 0.492124791 None None I
P/S 0.2329 likely_benign 0.2182 benign -0.517 Destabilizing 0.961 D 0.419 neutral N 0.504366469 None None I
P/T 0.1954 likely_benign 0.1909 benign -0.54 Destabilizing 0.219 N 0.201 neutral D 0.52766958 None None I
P/V 0.3528 ambiguous 0.3306 benign -0.323 Destabilizing 0.469 N 0.357 neutral None None None None I
P/W 0.8617 likely_pathogenic 0.8561 pathogenic -0.805 Destabilizing 1.0 D 0.63 neutral None None None None I
P/Y 0.6591 likely_pathogenic 0.6312 pathogenic -0.513 Destabilizing 0.999 D 0.55 neutral None None None None I

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.