Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2088662881;62882;62883 chr2:178589069;178589068;178589067chr2:179453796;179453795;179453794
N2AB1924557958;57959;57960 chr2:178589069;178589068;178589067chr2:179453796;179453795;179453794
N2A1831855177;55178;55179 chr2:178589069;178589068;178589067chr2:179453796;179453795;179453794
N2B1182135686;35687;35688 chr2:178589069;178589068;178589067chr2:179453796;179453795;179453794
Novex-11194636061;36062;36063 chr2:178589069;178589068;178589067chr2:179453796;179453795;179453794
Novex-21201336262;36263;36264 chr2:178589069;178589068;178589067chr2:179453796;179453795;179453794
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAT
  • RefSeq wild type template codon: CTA
  • Domain: Fn3-39
  • Domain position: 23
  • Structural Position: 25
  • Q(SASA): 0.414
  • 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/E rs1381546881 -0.618 0.117 N 0.206 0.047 0.151104730317 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14758E-04 0 None 0 0 None 0 None 0 0 0
D/E rs1381546881 -0.618 0.117 N 0.206 0.047 0.151104730317 gnomAD-3.1.2 6.58E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
D/E rs1381546881 -0.618 0.117 N 0.206 0.047 0.151104730317 gnomAD-4.0.0 6.57678E-06 None None None None N None 2.41348E-05 0 None 0 0 None 0 0 0 0 0
D/G None None 0.977 N 0.689 0.369 0.351614576976 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
D/N rs1445324473 -1.096 0.993 N 0.671 0.319 0.348983352498 gnomAD-2.1.1 8.16E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 8.93E-06 0
D/N rs1445324473 -1.096 0.993 N 0.671 0.319 0.348983352498 gnomAD-4.0.0 4.80654E-06 None None None None N None 0 2.28906E-05 None 0 0 None 0 0 5.71925E-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
D/A 0.264 likely_benign 0.2525 benign -0.407 Destabilizing 0.977 D 0.703 prob.neutral N 0.466244614 None None N
D/C 0.7619 likely_pathogenic 0.7687 pathogenic -0.365 Destabilizing 1.0 D 0.847 deleterious None None None None N
D/E 0.152 likely_benign 0.1549 benign -0.913 Destabilizing 0.117 N 0.206 neutral N 0.426376717 None None N
D/F 0.6816 likely_pathogenic 0.6509 pathogenic -0.073 Destabilizing 1.0 D 0.853 deleterious None None None None N
D/G 0.3485 ambiguous 0.3059 benign -0.786 Destabilizing 0.977 D 0.689 prob.neutral N 0.509592747 None None N
D/H 0.4719 ambiguous 0.4521 ambiguous -0.583 Destabilizing 0.999 D 0.802 deleterious N 0.485144627 None None N
D/I 0.4127 ambiguous 0.4188 ambiguous 0.602 Stabilizing 0.998 D 0.854 deleterious None None None None N
D/K 0.5713 likely_pathogenic 0.566 pathogenic -0.919 Destabilizing 0.99 D 0.751 deleterious None None None None N
D/L 0.3926 ambiguous 0.387 ambiguous 0.602 Stabilizing 0.995 D 0.845 deleterious None None None None N
D/M 0.5951 likely_pathogenic 0.5968 pathogenic 1.047 Stabilizing 1.0 D 0.848 deleterious None None None None N
D/N 0.1606 likely_benign 0.1476 benign -1.247 Destabilizing 0.993 D 0.671 neutral N 0.474344022 None None N
D/P 0.9662 likely_pathogenic 0.9657 pathogenic 0.292 Stabilizing 0.998 D 0.806 deleterious None None None None N
D/Q 0.4241 ambiguous 0.4337 ambiguous -1.032 Destabilizing 0.99 D 0.72 prob.delet. None None None None N
D/R 0.6655 likely_pathogenic 0.6547 pathogenic -0.765 Destabilizing 0.995 D 0.824 deleterious None None None None N
D/S 0.1907 likely_benign 0.1833 benign -1.533 Destabilizing 0.983 D 0.605 neutral None None None None N
D/T 0.3337 likely_benign 0.3417 ambiguous -1.23 Destabilizing 0.995 D 0.737 prob.delet. None None None None N
D/V 0.2659 likely_benign 0.2762 benign 0.292 Stabilizing 0.997 D 0.844 deleterious N 0.509419388 None None N
D/W 0.9212 likely_pathogenic 0.9164 pathogenic -0.062 Destabilizing 1.0 D 0.851 deleterious None None None None N
D/Y 0.3264 likely_benign 0.3063 benign 0.079 Stabilizing 1.0 D 0.853 deleterious N 0.521887253 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.