Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC894027043;27044;27045 chr2:178713316;178713315;178713314chr2:179578043;179578042;179578041
N2AB862326092;26093;26094 chr2:178713316;178713315;178713314chr2:179578043;179578042;179578041
N2A769623311;23312;23313 chr2:178713316;178713315;178713314chr2:179578043;179578042;179578041
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: G
  • RefSeq wild type transcript codon: GGC
  • RefSeq wild type template codon: CCG
  • Domain: Ig-75
  • Domain position: 15
  • Structural Position: 24
  • Q(SASA): 0.35
  • 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
G/A None None 0.978 D 0.525 0.507 0.537588199982 gnomAD-4.0.0 1.67742E-06 None None None None N None 0 0 None 4.90244E-05 0 None 0 0 0 0 0
G/S rs201005813 -0.481 0.996 D 0.589 0.433 None gnomAD-2.1.1 3.11272E-04 None None None None N None 3.13888E-03 3.45E-05 None 0 0 None 3.9E-05 None 8.92E-05 2.02E-05 0
G/S rs201005813 -0.481 0.996 D 0.589 0.433 None gnomAD-3.1.2 9.08253E-04 None None None None N None 3.19257E-03 1.96644E-04 0 0 0 None 9.47E-05 0 2.94E-05 0 0
G/S rs201005813 -0.481 0.996 D 0.589 0.433 None 1000 genomes 5.99042E-04 None None None None N None 2.3E-03 0 None None 0 0 None None None 0 None
G/S rs201005813 -0.481 0.996 D 0.589 0.433 None gnomAD-4.0.0 1.87174E-04 None None None None N None 3.35949E-03 1.09581E-04 None 0 0 None 4.81603E-05 1.67112E-04 1.11874E-05 3.44693E-05 3.25924E-04

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
G/A 0.2238 likely_benign 0.2475 benign -0.294 Destabilizing 0.978 D 0.525 neutral D 0.604324136 None None N
G/C 0.3597 ambiguous 0.4168 ambiguous -0.829 Destabilizing 1.0 D 0.708 prob.delet. D 0.653219797 None None N
G/D 0.2363 likely_benign 0.2426 benign -0.269 Destabilizing 0.241 N 0.407 neutral D 0.579261072 None None N
G/E 0.3128 likely_benign 0.3472 ambiguous -0.432 Destabilizing 0.967 D 0.647 neutral None None None None N
G/F 0.5718 likely_pathogenic 0.6257 pathogenic -1.028 Destabilizing 0.998 D 0.722 prob.delet. None None None None N
G/H 0.3669 ambiguous 0.3864 ambiguous -0.51 Destabilizing 0.491 N 0.575 neutral None None None None N
G/I 0.5196 ambiguous 0.5686 pathogenic -0.444 Destabilizing 0.999 D 0.724 prob.delet. None None None None N
G/K 0.4168 ambiguous 0.4635 ambiguous -0.608 Destabilizing 0.99 D 0.639 neutral None None None None N
G/L 0.5383 ambiguous 0.5794 pathogenic -0.444 Destabilizing 0.995 D 0.697 prob.neutral None None None None N
G/M 0.6133 likely_pathogenic 0.6571 pathogenic -0.379 Destabilizing 1.0 D 0.721 prob.delet. None None None None N
G/N 0.2556 likely_benign 0.2643 benign -0.291 Destabilizing 0.995 D 0.605 neutral None None None None N
G/P 0.911 likely_pathogenic 0.9286 pathogenic -0.362 Destabilizing 0.999 D 0.668 neutral None None None None N
G/Q 0.3546 ambiguous 0.3812 ambiguous -0.577 Destabilizing 0.923 D 0.557 neutral None None None None N
G/R 0.285 likely_benign 0.3163 benign -0.219 Destabilizing 0.997 D 0.667 neutral D 0.615437679 None None N
G/S 0.127 likely_benign 0.1353 benign -0.495 Destabilizing 0.996 D 0.589 neutral D 0.570458458 None None N
G/T 0.2929 likely_benign 0.3207 benign -0.585 Destabilizing 0.998 D 0.656 neutral None None None None N
G/V 0.4176 ambiguous 0.4567 ambiguous -0.362 Destabilizing 0.997 D 0.701 prob.neutral D 0.636998631 None None N
G/W 0.5042 ambiguous 0.559 ambiguous -1.155 Destabilizing 1.0 D 0.663 neutral None None None None N
G/Y 0.4742 ambiguous 0.5105 ambiguous -0.801 Destabilizing 0.995 D 0.724 prob.delet. 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.