Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2387971860;71861;71862 chr2:178574497;178574496;178574495chr2:179439224;179439223;179439222
N2AB2223866937;66938;66939 chr2:178574497;178574496;178574495chr2:179439224;179439223;179439222
N2A2131164156;64157;64158 chr2:178574497;178574496;178574495chr2:179439224;179439223;179439222
N2B1481444665;44666;44667 chr2:178574497;178574496;178574495chr2:179439224;179439223;179439222
Novex-11493945040;45041;45042 chr2:178574497;178574496;178574495chr2:179439224;179439223;179439222
Novex-21500645241;45242;45243 chr2:178574497;178574496;178574495chr2:179439224;179439223;179439222
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: A
  • RefSeq wild type transcript codon: GCT
  • RefSeq wild type template codon: CGA
  • Domain: Fn3-61
  • Domain position: 54
  • Structural Position: 72
  • Q(SASA): 0.5444
  • 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
A/P rs778238304 0.101 0.966 N 0.321 0.27 0.379020345274 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 0 1.65782E-04
A/P rs778238304 0.101 0.966 N 0.321 0.27 0.379020345274 gnomAD-4.0.0 2.05279E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79913E-06 0 1.65678E-05
A/T rs778238304 -0.225 0.051 N 0.161 0.152 0.208816687407 gnomAD-2.1.1 8.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.78E-05 0
A/T rs778238304 -0.225 0.051 N 0.161 0.152 0.208816687407 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
A/T rs778238304 -0.225 0.051 N 0.161 0.152 0.208816687407 gnomAD-4.0.0 3.16072E-05 None None None None I None 0 0 None 0 0 None 0 0 3.81467E-05 0 9.60799E-05
A/V rs566803857 None 0.669 N 0.225 0.171 0.284150004643 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-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
A/C 0.2654 likely_benign 0.2754 benign -0.688 Destabilizing 0.998 D 0.315 neutral None None None None I
A/D 0.2335 likely_benign 0.2479 benign -0.562 Destabilizing 0.669 D 0.312 neutral N 0.436206922 None None I
A/E 0.2249 likely_benign 0.2454 benign -0.693 Destabilizing 0.842 D 0.291 neutral None None None None I
A/F 0.1995 likely_benign 0.2013 benign -0.792 Destabilizing 0.949 D 0.345 neutral None None None None I
A/G 0.0982 likely_benign 0.0961 benign -0.336 Destabilizing 0.005 N 0.101 neutral N 0.447250635 None None I
A/H 0.3017 likely_benign 0.3187 benign -0.34 Destabilizing 0.993 D 0.337 neutral None None None None I
A/I 0.1248 likely_benign 0.1283 benign -0.255 Destabilizing 0.904 D 0.33 neutral None None None None I
A/K 0.3646 ambiguous 0.3938 ambiguous -0.708 Destabilizing 0.842 D 0.293 neutral None None None None I
A/L 0.1105 likely_benign 0.1177 benign -0.255 Destabilizing 0.275 N 0.25 neutral None None None None I
A/M 0.113 likely_benign 0.1167 benign -0.438 Destabilizing 0.525 D 0.259 neutral None None None None I
A/N 0.1276 likely_benign 0.1324 benign -0.35 Destabilizing 0.016 N 0.205 neutral None None None None I
A/P 0.3963 ambiguous 0.4023 ambiguous -0.224 Destabilizing 0.966 D 0.321 neutral N 0.483518079 None None I
A/Q 0.2378 likely_benign 0.253 benign -0.595 Destabilizing 0.974 D 0.319 neutral None None None None I
A/R 0.3721 ambiguous 0.3871 ambiguous -0.256 Destabilizing 0.949 D 0.327 neutral None None None None I
A/S 0.0733 likely_benign 0.0735 benign -0.537 Destabilizing 0.454 N 0.283 neutral N 0.421853545 None None I
A/T 0.0622 likely_benign 0.063 benign -0.587 Destabilizing 0.051 N 0.161 neutral N 0.378966772 None None I
A/V 0.0774 likely_benign 0.0785 benign -0.224 Destabilizing 0.669 D 0.225 neutral N 0.399955333 None None I
A/W 0.5493 ambiguous 0.5502 ambiguous -0.966 Destabilizing 0.998 D 0.412 neutral None None None None I
A/Y 0.2602 likely_benign 0.2617 benign -0.615 Destabilizing 0.974 D 0.336 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.