Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC912527598;27599;27600 chr2:178712549;178712548;178712547chr2:179577276;179577275;179577274
N2AB880826647;26648;26649 chr2:178712549;178712548;178712547chr2:179577276;179577275;179577274
N2A788123866;23867;23868 chr2:178712549;178712548;178712547chr2:179577276;179577275;179577274
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: K
  • RefSeq wild type transcript codon: AAA
  • RefSeq wild type template codon: TTT
  • Domain: Ig-77
  • Domain position: 14
  • Structural Position: 23
  • Q(SASA): 0.7931
  • Predicted PPI site: I

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
K/N rs749332790 0.196 0.984 N 0.411 0.176 0.187945064343 gnomAD-2.1.1 4.04E-06 None None None None I None 6.49E-05 0 None 0 0 None 0 None 0 0 0
K/N rs749332790 0.196 0.984 N 0.411 0.176 0.187945064343 gnomAD-3.1.2 1.31E-05 None None None None I None 4.82E-05 0 0 0 0 None 0 0 0 0 0
K/N rs749332790 0.196 0.984 N 0.411 0.176 0.187945064343 gnomAD-4.0.0 1.31406E-05 None None None None I None 4.82416E-05 0 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
K/A 0.2165 likely_benign 0.1954 benign -0.211 Destabilizing 0.034 N 0.267 neutral None None None None I
K/C 0.6894 likely_pathogenic 0.6221 pathogenic -0.308 Destabilizing 0.999 D 0.531 neutral None None None None I
K/D 0.4717 ambiguous 0.4304 ambiguous 0.373 Stabilizing 0.976 D 0.423 neutral None None None None I
K/E 0.1206 likely_benign 0.1098 benign 0.405 Stabilizing 0.811 D 0.477 neutral N 0.370989502 None None I
K/F 0.6882 likely_pathogenic 0.6463 pathogenic -0.324 Destabilizing 0.976 D 0.523 neutral None None None None I
K/G 0.3965 ambiguous 0.3342 benign -0.456 Destabilizing 0.851 D 0.519 neutral None None None None I
K/H 0.3515 ambiguous 0.3188 benign -0.796 Destabilizing 0.997 D 0.424 neutral None None None None I
K/I 0.2171 likely_benign 0.2068 benign 0.364 Stabilizing 0.938 D 0.489 neutral N 0.46530796 None None I
K/L 0.2799 likely_benign 0.2522 benign 0.364 Stabilizing 0.034 N 0.341 neutral None None None None I
K/M 0.1484 likely_benign 0.1456 benign 0.26 Stabilizing 0.976 D 0.428 neutral None None None None I
K/N 0.2983 likely_benign 0.2604 benign 0.157 Stabilizing 0.984 D 0.411 neutral N 0.494630789 None None I
K/P 0.4748 ambiguous 0.3926 ambiguous 0.202 Stabilizing 0.988 D 0.441 neutral None None None None I
K/Q 0.1291 likely_benign 0.1168 benign -0.017 Destabilizing 0.437 N 0.288 neutral N 0.466001393 None None I
K/R 0.0915 likely_benign 0.0841 benign -0.124 Destabilizing 0.896 D 0.476 neutral N 0.450205221 None None I
K/S 0.3241 likely_benign 0.2743 benign -0.486 Destabilizing 0.851 D 0.463 neutral None None None None I
K/T 0.1308 likely_benign 0.1176 benign -0.281 Destabilizing 0.896 D 0.487 neutral N 0.450031863 None None I
K/V 0.2226 likely_benign 0.2071 benign 0.202 Stabilizing 0.851 D 0.515 neutral None None None None I
K/W 0.7465 likely_pathogenic 0.7006 pathogenic -0.247 Destabilizing 0.999 D 0.63 neutral None None None None I
K/Y 0.5353 ambiguous 0.499 ambiguous 0.095 Stabilizing 0.996 D 0.501 neutral None None None None I

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.