Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2357770954;70955;70956 chr2:178575403;178575402;178575401chr2:179440130;179440129;179440128
N2AB2193666031;66032;66033 chr2:178575403;178575402;178575401chr2:179440130;179440129;179440128
N2A2100963250;63251;63252 chr2:178575403;178575402;178575401chr2:179440130;179440129;179440128
N2B1451243759;43760;43761 chr2:178575403;178575402;178575401chr2:179440130;179440129;179440128
Novex-11463744134;44135;44136 chr2:178575403;178575402;178575401chr2:179440130;179440129;179440128
Novex-21470444335;44336;44337 chr2:178575403;178575402;178575401chr2:179440130;179440129;179440128
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAC
  • RefSeq wild type template codon: CTG
  • Domain: Fn3-59
  • Domain position: 46
  • Structural Position: 63
  • Q(SASA): 0.8209
  • 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
D/N rs1343180009 0.581 0.003 N 0.314 0.118 0.258283824007 gnomAD-2.1.1 4.02E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
D/N rs1343180009 0.581 0.003 N 0.314 0.118 0.258283824007 gnomAD-4.0.0 1.59174E-06 None None None None N None 0 2.28666E-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
D/A 0.1262 likely_benign 0.1149 benign 0.093 Stabilizing 0.316 N 0.379 neutral N 0.495564657 None None N
D/C 0.5108 ambiguous 0.477 ambiguous -0.04 Destabilizing 0.986 D 0.445 neutral None None None None N
D/E 0.0922 likely_benign 0.0903 benign -0.34 Destabilizing 0.001 N 0.147 neutral N 0.437380358 None None N
D/F 0.4773 ambiguous 0.4381 ambiguous -0.109 Destabilizing 0.987 D 0.451 neutral None None None None N
D/G 0.1274 likely_benign 0.1131 benign 0.016 Stabilizing 0.447 N 0.434 neutral N 0.469818063 None None N
D/H 0.2128 likely_benign 0.1936 benign 0.464 Stabilizing 0.955 D 0.476 neutral N 0.467988196 None None N
D/I 0.2488 likely_benign 0.2262 benign 0.223 Stabilizing 0.974 D 0.445 neutral None None None None N
D/K 0.2109 likely_benign 0.2006 benign 0.469 Stabilizing 0.032 N 0.354 neutral None None None None N
D/L 0.2271 likely_benign 0.2031 benign 0.223 Stabilizing 0.842 D 0.415 neutral None None None None N
D/M 0.4019 ambiguous 0.3827 ambiguous 0.068 Stabilizing 0.997 D 0.45 neutral None None None None N
D/N 0.0856 likely_benign 0.0815 benign 0.36 Stabilizing 0.003 N 0.314 neutral N 0.486731743 None None N
D/P 0.3408 ambiguous 0.3184 benign 0.197 Stabilizing 0.599 D 0.455 neutral None None None None N
D/Q 0.1982 likely_benign 0.189 benign 0.33 Stabilizing 0.799 D 0.405 neutral None None None None N
D/R 0.2705 likely_benign 0.252 benign 0.611 Stabilizing 0.842 D 0.411 neutral None None None None N
D/S 0.0859 likely_benign 0.0811 benign 0.248 Stabilizing 0.379 N 0.386 neutral None None None None N
D/T 0.1311 likely_benign 0.1246 benign 0.312 Stabilizing 0.017 N 0.364 neutral None None None None N
D/V 0.1537 likely_benign 0.1399 benign 0.197 Stabilizing 0.412 N 0.415 neutral D 0.522769901 None None N
D/W 0.8031 likely_pathogenic 0.7756 pathogenic -0.117 Destabilizing 0.999 D 0.505 neutral None None None None N
D/Y 0.2317 likely_benign 0.2096 benign 0.105 Stabilizing 0.994 D 0.448 neutral N 0.474722919 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.