Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1499245199;45200;45201 chr2:178621948;178621947;178621946chr2:179486675;179486674;179486673
N2AB1335140276;40277;40278 chr2:178621948;178621947;178621946chr2:179486675;179486674;179486673
N2A1242437495;37496;37497 chr2:178621948;178621947;178621946chr2:179486675;179486674;179486673
N2B592718004;18005;18006 chr2:178621948;178621947;178621946chr2:179486675;179486674;179486673
Novex-1605218379;18380;18381 chr2:178621948;178621947;178621946chr2:179486675;179486674;179486673
Novex-2611918580;18581;18582 chr2:178621948;178621947;178621946chr2:179486675;179486674;179486673
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAG
  • RefSeq wild type template codon: TTC
  • Domain: Ig-101
  • Domain position: 51
  • Structural Position: 130
  • Q(SASA): 0.625
  • 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
K/E rs1174482047 0.465 0.134 N 0.194 0.156 0.237489013734 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 3.89257E-04 None 0 0 0 0 0
K/E rs1174482047 0.465 0.134 N 0.194 0.156 0.237489013734 gnomAD-4.0.0 1.31617E-05 None None None None N None 0 0 None 0 3.89257E-04 None 0 0 0 0 0
K/N rs2058355200 None 0.959 N 0.386 0.272 0.291694819147 gnomAD-4.0.0 1.59602E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86546E-06 0 0
K/Q rs1174482047 0.201 0.31 N 0.192 0.153 0.242825505644 gnomAD-2.1.1 4.05E-06 None None None None N None 0 2.92E-05 None 0 0 None 0 None 0 0 0
K/Q rs1174482047 0.201 0.31 N 0.192 0.153 0.242825505644 gnomAD-4.0.0 1.59614E-06 None None None None N None 0 2.2979E-05 None 0 0 None 0 0 0 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
K/A 0.461 ambiguous 0.4347 ambiguous -0.103 Destabilizing 0.863 D 0.425 neutral None None None None N
K/C 0.8827 likely_pathogenic 0.8812 pathogenic -0.487 Destabilizing 0.999 D 0.489 neutral None None None None N
K/D 0.5719 likely_pathogenic 0.5442 ambiguous 0.215 Stabilizing 0.884 D 0.425 neutral None None None None N
K/E 0.1914 likely_benign 0.1653 benign 0.24 Stabilizing 0.134 N 0.194 neutral N 0.41555998 None None N
K/F 0.9195 likely_pathogenic 0.9073 pathogenic -0.323 Destabilizing 0.997 D 0.461 neutral None None None None N
K/G 0.6199 likely_pathogenic 0.5821 pathogenic -0.299 Destabilizing 0.969 D 0.447 neutral None None None None N
K/H 0.4397 ambiguous 0.438 ambiguous -0.497 Destabilizing 0.991 D 0.407 neutral None None None None N
K/I 0.5919 likely_pathogenic 0.5539 ambiguous 0.337 Stabilizing 0.997 D 0.466 neutral None None None None N
K/L 0.6144 likely_pathogenic 0.5775 pathogenic 0.337 Stabilizing 0.939 D 0.451 neutral None None None None N
K/M 0.46 ambiguous 0.4202 ambiguous 0.039 Stabilizing 0.996 D 0.409 neutral N 0.516994154 None None N
K/N 0.5071 ambiguous 0.4651 ambiguous -0.012 Destabilizing 0.959 D 0.386 neutral N 0.503041927 None None N
K/P 0.894 likely_pathogenic 0.8706 pathogenic 0.218 Stabilizing 0.997 D 0.369 neutral None None None None N
K/Q 0.172 likely_benign 0.1654 benign -0.115 Destabilizing 0.31 N 0.192 neutral N 0.48678288 None None N
K/R 0.0983 likely_benign 0.0955 benign -0.088 Destabilizing 0.92 D 0.415 neutral N 0.510387553 None None N
K/S 0.4902 ambiguous 0.4628 ambiguous -0.536 Destabilizing 0.939 D 0.401 neutral None None None None N
K/T 0.2669 likely_benign 0.238 benign -0.35 Destabilizing 0.959 D 0.423 neutral N 0.511760013 None None N
K/V 0.4997 ambiguous 0.4813 ambiguous 0.218 Stabilizing 0.969 D 0.423 neutral None None None None N
K/W 0.8978 likely_pathogenic 0.8876 pathogenic -0.34 Destabilizing 0.999 D 0.543 neutral None None None None N
K/Y 0.8164 likely_pathogenic 0.8017 pathogenic 0.021 Stabilizing 0.997 D 0.445 neutral None None 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.