Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC999430205;30206;30207 chr2:178704390;178704389;178704388chr2:179569117;179569116;179569115
N2AB967729254;29255;29256 chr2:178704390;178704389;178704388chr2:179569117;179569116;179569115
N2A875026473;26474;26475 chr2:178704390;178704389;178704388chr2:179569117;179569116;179569115
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: H
  • RefSeq wild type transcript codon: CAT
  • RefSeq wild type template codon: GTA
  • Domain: Ig-85
  • Domain position: 6
  • Structural Position: 7
  • Q(SASA): 0.4881
  • 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
H/R None None 0.966 None 0.405 0.24 0.282179105231 gnomAD-4.0.0 1.59216E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86067E-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
H/A 0.4071 ambiguous 0.5664 pathogenic 0.18 Stabilizing 0.525 D 0.429 neutral None None None None N
H/C 0.3942 ambiguous 0.4555 ambiguous 0.968 Stabilizing 0.998 D 0.563 neutral None None None None N
H/D 0.3317 likely_benign 0.4494 ambiguous 0.121 Stabilizing 0.801 D 0.418 neutral None None None None N
H/E 0.3956 ambiguous 0.5158 ambiguous 0.182 Stabilizing 0.842 D 0.347 neutral None None None None N
H/F 0.468 ambiguous 0.5521 ambiguous 1.071 Stabilizing 0.991 D 0.501 neutral None None None None N
H/G 0.4784 ambiguous 0.6142 pathogenic -0.159 Destabilizing 0.842 D 0.462 neutral None None None None N
H/I 0.4938 ambiguous 0.6309 pathogenic 1.076 Stabilizing 0.974 D 0.567 neutral None None None None N
H/K 0.2849 likely_benign 0.3636 ambiguous 0.412 Stabilizing 0.842 D 0.404 neutral None None None None N
H/L 0.1898 likely_benign 0.2422 benign 1.076 Stabilizing 0.801 D 0.5 neutral None None None None N
H/M 0.6341 likely_pathogenic 0.7416 pathogenic 0.849 Stabilizing 0.998 D 0.535 neutral None None None None N
H/N 0.1369 likely_benign 0.1889 benign 0.46 Stabilizing 0.801 D 0.368 neutral None None None None N
H/P 0.1241 likely_benign 0.1663 benign 0.803 Stabilizing 0.005 N 0.253 neutral None None None None N
H/Q 0.2412 likely_benign 0.3439 ambiguous 0.622 Stabilizing 0.966 D 0.425 neutral None None None None N
H/R 0.1269 likely_benign 0.1615 benign -0.296 Destabilizing 0.966 D 0.405 neutral None None None None N
H/S 0.3368 likely_benign 0.4783 ambiguous 0.541 Stabilizing 0.172 N 0.285 neutral None None None None N
H/T 0.4062 ambiguous 0.5709 pathogenic 0.704 Stabilizing 0.728 D 0.481 neutral None None None None N
H/V 0.433 ambiguous 0.5642 pathogenic 0.803 Stabilizing 0.974 D 0.516 neutral None None None None N
H/W 0.5922 likely_pathogenic 0.6485 pathogenic 1.163 Stabilizing 0.998 D 0.609 neutral None None None None N
H/Y 0.1603 likely_benign 0.1899 benign 1.401 Stabilizing 0.989 D 0.435 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.