Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC11023529;3530;3531 chr2:178782288;178782287;178782286chr2:179647015;179647014;179647013
N2AB11023529;3530;3531 chr2:178782288;178782287;178782286chr2:179647015;179647014;179647013
N2A11023529;3530;3531 chr2:178782288;178782287;178782286chr2:179647015;179647014;179647013
N2B10563391;3392;3393 chr2:178782288;178782287;178782286chr2:179647015;179647014;179647013
Novex-110563391;3392;3393 chr2:178782288;178782287;178782286chr2:179647015;179647014;179647013
Novex-210563391;3392;3393 chr2:178782288;178782287;178782286chr2:179647015;179647014;179647013
Novex-311023529;3530;3531 chr2:178782288;178782287;178782286chr2:179647015;179647014;179647013

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGA
  • RefSeq wild type template codon: CCT
  • Domain: Ig-4
  • Domain position: 21
  • Structural Position: 31
  • Q(SASA): 0.2418
  • 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
G/R rs1016142990 None 0.017 N 0.46 0.161 0.62384306378 gnomAD-3.1.2 6.57E-06 None None None None I None 0 6.55E-05 0 0 0 None 0 0 0 0 0
G/R rs1016142990 None 0.017 N 0.46 0.161 0.62384306378 gnomAD-4.0.0 5.12184E-06 None None None None I None 1.68776E-05 5.08233E-05 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
G/A 0.0685 likely_benign 0.0702 benign -0.663 Destabilizing 0.003 N 0.327 neutral N 0.397367865 None None I
G/C 0.1819 likely_benign 0.1802 benign -0.806 Destabilizing 0.55 D 0.495 neutral None None None None I
G/D 0.1436 likely_benign 0.1541 benign -1.553 Destabilizing None N 0.247 neutral None None None None I
G/E 0.0694 likely_benign 0.0714 benign -1.515 Destabilizing None N 0.289 neutral N 0.289434122 None None I
G/F 0.3861 ambiguous 0.3987 ambiguous -0.817 Destabilizing 0.138 N 0.573 neutral None None None None I
G/H 0.2184 likely_benign 0.2271 benign -1.693 Destabilizing None N 0.355 neutral None None None None I
G/I 0.0994 likely_benign 0.0986 benign 0.065 Stabilizing 0.003 N 0.411 neutral None None None None I
G/K 0.2344 likely_benign 0.2331 benign -1.233 Destabilizing 0.009 N 0.424 neutral None None None None I
G/L 0.1666 likely_benign 0.166 benign 0.065 Stabilizing 0.009 N 0.429 neutral None None None None I
G/M 0.2188 likely_benign 0.2235 benign 0.037 Stabilizing 0.138 N 0.505 neutral None None None None I
G/N 0.1765 likely_benign 0.1851 benign -1.042 Destabilizing 0.009 N 0.324 neutral None None None None I
G/P 0.7275 likely_pathogenic 0.7431 pathogenic -0.133 Destabilizing 0.085 N 0.475 neutral None None None None I
G/Q 0.129 likely_benign 0.1347 benign -1.069 Destabilizing 0.022 N 0.429 neutral None None None None I
G/R 0.1766 likely_benign 0.18 benign -1.147 Destabilizing 0.017 N 0.46 neutral N 0.297969803 None None I
G/S 0.0711 likely_benign 0.0755 benign -1.32 Destabilizing 0.009 N 0.335 neutral None None None None I
G/T 0.072 likely_benign 0.0742 benign -1.189 Destabilizing 0.018 N 0.399 neutral None None None None I
G/V 0.0693 likely_benign 0.0707 benign -0.133 Destabilizing None N 0.431 neutral N 0.381210143 None None I
G/W 0.3239 likely_benign 0.3249 benign -1.437 Destabilizing 0.788 D 0.513 neutral None None None None I
G/Y 0.312 likely_benign 0.3218 benign -0.904 Destabilizing 0.044 N 0.529 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.