Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3035791294;91295;91296 chr2:178551831;178551830;178551829chr2:179416558;179416557;179416556
N2AB2871686371;86372;86373 chr2:178551831;178551830;178551829chr2:179416558;179416557;179416556
N2A2778983590;83591;83592 chr2:178551831;178551830;178551829chr2:179416558;179416557;179416556
N2B2129264099;64100;64101 chr2:178551831;178551830;178551829chr2:179416558;179416557;179416556
Novex-12141764474;64475;64476 chr2:178551831;178551830;178551829chr2:179416558;179416557;179416556
Novex-22148464675;64676;64677 chr2:178551831;178551830;178551829chr2:179416558;179416557;179416556
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACT
  • RefSeq wild type template codon: TGA
  • Domain: Fn3-109
  • Domain position: 34
  • Structural Position: 36
  • Q(SASA): 0.4177
  • 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
T/I rs754537852 -0.281 0.012 N 0.223 0.144 0.260735089382 gnomAD-2.1.1 1.21E-05 None None None None I None 0 2.9E-05 None 0 0 None 6.54E-05 None 0 0 0
T/I rs754537852 -0.281 0.012 N 0.223 0.144 0.260735089382 gnomAD-4.0.0 2.05254E-06 None None None None I None 0 2.23604E-05 None 0 0 None 0 0 0 2.31868E-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
T/A 0.0851 likely_benign 0.0911 benign -0.714 Destabilizing 0.625 D 0.405 neutral N 0.496060086 None None I
T/C 0.2844 likely_benign 0.2983 benign -0.422 Destabilizing 0.998 D 0.415 neutral None None None None I
T/D 0.4262 ambiguous 0.4416 ambiguous -0.274 Destabilizing 0.991 D 0.455 neutral None None None None I
T/E 0.3129 likely_benign 0.3177 benign -0.334 Destabilizing 0.915 D 0.438 neutral None None None None I
T/F 0.1709 likely_benign 0.1783 benign -1.161 Destabilizing 0.949 D 0.428 neutral None None None None I
T/G 0.2137 likely_benign 0.2326 benign -0.865 Destabilizing 0.915 D 0.407 neutral None None None None I
T/H 0.2239 likely_benign 0.2353 benign -1.248 Destabilizing 0.998 D 0.375 neutral None None None None I
T/I 0.0923 likely_benign 0.0968 benign -0.422 Destabilizing 0.012 N 0.223 neutral N 0.49947454 None None I
T/K 0.1588 likely_benign 0.1678 benign -0.495 Destabilizing 0.842 D 0.409 neutral None None None None I
T/L 0.0674 likely_benign 0.0684 benign -0.422 Destabilizing 0.007 N 0.149 neutral None None None None I
T/M 0.0719 likely_benign 0.0723 benign 0.056 Stabilizing 0.172 N 0.217 neutral None None None None I
T/N 0.1167 likely_benign 0.125 benign -0.33 Destabilizing 0.989 D 0.407 neutral N 0.487350354 None None I
T/P 0.3691 ambiguous 0.4521 ambiguous -0.492 Destabilizing 0.989 D 0.469 neutral D 0.532068013 None None I
T/Q 0.2016 likely_benign 0.2068 benign -0.688 Destabilizing 0.974 D 0.463 neutral None None None None I
T/R 0.1329 likely_benign 0.1373 benign -0.162 Destabilizing 0.974 D 0.462 neutral None None None None I
T/S 0.1027 likely_benign 0.1064 benign -0.576 Destabilizing 0.891 D 0.309 neutral N 0.521599252 None None I
T/V 0.0887 likely_benign 0.0917 benign -0.492 Destabilizing 0.325 N 0.259 neutral None None None None I
T/W 0.4596 ambiguous 0.473 ambiguous -1.058 Destabilizing 0.998 D 0.401 neutral None None None None I
T/Y 0.2468 likely_benign 0.2577 benign -0.802 Destabilizing 0.974 D 0.431 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.