Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2024060943;60944;60945 chr2:178591007;178591006;178591005chr2:179455734;179455733;179455732
N2AB1859956020;56021;56022 chr2:178591007;178591006;178591005chr2:179455734;179455733;179455732
N2A1767253239;53240;53241 chr2:178591007;178591006;178591005chr2:179455734;179455733;179455732
N2B1117533748;33749;33750 chr2:178591007;178591006;178591005chr2:179455734;179455733;179455732
Novex-11130034123;34124;34125 chr2:178591007;178591006;178591005chr2:179455734;179455733;179455732
Novex-21136734324;34325;34326 chr2:178591007;178591006;178591005chr2:179455734;179455733;179455732
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: C
  • RefSeq wild type transcript codon: TGT
  • RefSeq wild type template codon: ACA
  • Domain: Fn3-34
  • Domain position: 70
  • Structural Position: 102
  • Q(SASA): 0.1946
  • 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
C/R None None 0.017 N 0.443 0.094 0.524166996187 gnomAD-4.0.0 4.80129E-06 None None None None N None 0 0 None 0 0 None 0 0 5.25001E-06 0 0
C/Y rs1054918425 -1.378 None N 0.215 0.066 0.177238962908 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.96E-06 0
C/Y rs1054918425 -1.378 None N 0.215 0.066 0.177238962908 gnomAD-4.0.0 5.47467E-06 None None None None N None 0 0 None 0 2.52067E-05 None 0 0 5.39772E-06 1.1595E-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
C/A 0.3245 likely_benign 0.254 benign -1.781 Destabilizing None N 0.057 neutral None None None None N
C/D 0.5487 ambiguous 0.4298 ambiguous -0.595 Destabilizing 0.009 N 0.323 neutral None None None None N
C/E 0.5986 likely_pathogenic 0.4801 ambiguous -0.477 Destabilizing 0.009 N 0.321 neutral None None None None N
C/F 0.1639 likely_benign 0.1109 benign -1.131 Destabilizing 0.017 N 0.411 neutral N 0.471399718 None None N
C/G 0.194 likely_benign 0.1631 benign -2.098 Highly Destabilizing 0.007 N 0.312 neutral N 0.420586895 None None N
C/H 0.2617 likely_benign 0.1712 benign -2.118 Highly Destabilizing 0.138 N 0.453 neutral None None None None N
C/I 0.3783 ambiguous 0.2907 benign -0.961 Destabilizing 0.009 N 0.333 neutral None None None None N
C/K 0.4846 ambiguous 0.3517 ambiguous -1.072 Destabilizing 0.009 N 0.341 neutral None None None None N
C/L 0.3377 likely_benign 0.2733 benign -0.961 Destabilizing 0.004 N 0.255 neutral None None None None N
C/M 0.4361 ambiguous 0.3615 ambiguous -0.036 Destabilizing 0.245 N 0.34 neutral None None None None N
C/N 0.3055 likely_benign 0.2301 benign -1.122 Destabilizing None N 0.191 neutral None None None None N
C/P 0.9684 likely_pathogenic 0.9543 pathogenic -1.209 Destabilizing 0.044 N 0.469 neutral None None None None N
C/Q 0.3368 likely_benign 0.2372 benign -1.005 Destabilizing 0.001 N 0.249 neutral None None None None N
C/R 0.2163 likely_benign 0.1485 benign -0.971 Destabilizing 0.017 N 0.443 neutral N 0.355303266 None None N
C/S 0.2016 likely_benign 0.1594 benign -1.65 Destabilizing None N 0.113 neutral N 0.385818174 None None N
C/T 0.3204 likely_benign 0.2519 benign -1.348 Destabilizing None N 0.112 neutral None None None None N
C/V 0.3217 likely_benign 0.2522 benign -1.209 Destabilizing None N 0.107 neutral None None None None N
C/W 0.333 likely_benign 0.2441 benign -1.163 Destabilizing 0.48 N 0.401 neutral N 0.446792062 None None N
C/Y 0.1909 likely_benign 0.1308 benign -1.133 Destabilizing None N 0.215 neutral N 0.489985479 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.