Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1687250839;50840;50841 chr2:178611615;178611614;178611613chr2:179476342;179476341;179476340
N2AB1523145916;45917;45918 chr2:178611615;178611614;178611613chr2:179476342;179476341;179476340
N2A1430443135;43136;43137 chr2:178611615;178611614;178611613chr2:179476342;179476341;179476340
N2B780723644;23645;23646 chr2:178611615;178611614;178611613chr2:179476342;179476341;179476340
Novex-1793224019;24020;24021 chr2:178611615;178611614;178611613chr2:179476342;179476341;179476340
Novex-2799924220;24221;24222 chr2:178611615;178611614;178611613chr2:179476342;179476341;179476340
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: A
  • RefSeq wild type transcript codon: GCT
  • RefSeq wild type template codon: CGA
  • Domain: Fn3-11
  • Domain position: 21
  • Structural Position: 23
  • Q(SASA): 0.1896
  • 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
A/P rs727503619 -0.193 0.999 N 0.813 0.374 0.264081493735 gnomAD-2.1.1 7.16E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.57E-05 0
A/P rs727503619 -0.193 0.999 N 0.813 0.374 0.264081493735 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
A/P rs727503619 -0.193 0.999 N 0.813 0.374 0.264081493735 gnomAD-4.0.0 2.47996E-05 None None None None N None 0 1.66834E-05 None 0 0 None 0 0 3.30692E-05 0 0
A/V rs748264576 0.14 0.998 N 0.683 0.34 0.352476196916 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
A/V rs748264576 0.14 0.998 N 0.683 0.34 0.352476196916 gnomAD-4.0.0 1.59291E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43332E-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
A/C 0.5602 ambiguous 0.5663 pathogenic -0.679 Destabilizing 1.0 D 0.78 deleterious None None None None N
A/D 0.6778 likely_pathogenic 0.6441 pathogenic -2.109 Highly Destabilizing 0.999 D 0.808 deleterious N 0.481029695 None None N
A/E 0.4695 ambiguous 0.4537 ambiguous -1.981 Destabilizing 0.999 D 0.737 prob.delet. None None None None N
A/F 0.5545 ambiguous 0.5398 ambiguous -0.721 Destabilizing 1.0 D 0.896 deleterious None None None None N
A/G 0.2711 likely_benign 0.2471 benign -1.308 Destabilizing 0.996 D 0.541 neutral N 0.479189905 None None N
A/H 0.6919 likely_pathogenic 0.6766 pathogenic -1.886 Destabilizing 1.0 D 0.871 deleterious None None None None N
A/I 0.431 ambiguous 0.4281 ambiguous 0.145 Stabilizing 1.0 D 0.812 deleterious None None None None N
A/K 0.7681 likely_pathogenic 0.7563 pathogenic -1.231 Destabilizing 0.999 D 0.743 deleterious None None None None N
A/L 0.3373 likely_benign 0.3069 benign 0.145 Stabilizing 0.998 D 0.709 prob.delet. None None None None N
A/M 0.3511 ambiguous 0.3437 ambiguous 0.178 Stabilizing 1.0 D 0.815 deleterious None None None None N
A/N 0.4355 ambiguous 0.4239 ambiguous -1.288 Destabilizing 0.999 D 0.821 deleterious None None None None N
A/P 0.9871 likely_pathogenic 0.9841 pathogenic -0.161 Destabilizing 0.999 D 0.813 deleterious N 0.50767516 None None N
A/Q 0.4946 ambiguous 0.4782 ambiguous -1.206 Destabilizing 1.0 D 0.854 deleterious None None None None N
A/R 0.7006 likely_pathogenic 0.6733 pathogenic -1.171 Destabilizing 1.0 D 0.839 deleterious None None None None N
A/S 0.0913 likely_benign 0.0892 benign -1.611 Destabilizing 0.957 D 0.405 neutral N 0.419488947 None None N
A/T 0.0978 likely_benign 0.0981 benign -1.384 Destabilizing 0.992 D 0.629 neutral N 0.376259907 None None N
A/V 0.2337 likely_benign 0.2263 benign -0.161 Destabilizing 0.998 D 0.683 prob.neutral N 0.480285537 None None N
A/W 0.9322 likely_pathogenic 0.9175 pathogenic -1.516 Destabilizing 1.0 D 0.861 deleterious None None None None N
A/Y 0.7358 likely_pathogenic 0.7267 pathogenic -0.938 Destabilizing 1.0 D 0.887 deleterious 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.