Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2670880347;80348;80349 chr2:178566010;178566009;178566008chr2:179430737;179430736;179430735
N2AB2506775424;75425;75426 chr2:178566010;178566009;178566008chr2:179430737;179430736;179430735
N2A2414072643;72644;72645 chr2:178566010;178566009;178566008chr2:179430737;179430736;179430735
N2B1764353152;53153;53154 chr2:178566010;178566009;178566008chr2:179430737;179430736;179430735
Novex-11776853527;53528;53529 chr2:178566010;178566009;178566008chr2:179430737;179430736;179430735
Novex-21783553728;53729;53730 chr2:178566010;178566009;178566008chr2:179430737;179430736;179430735
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATC
  • RefSeq wild type template codon: TAG
  • Domain: Fn3-82
  • Domain position: 26
  • Structural Position: 28
  • Q(SASA): 0.5226
  • 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
I/M rs886043518 -0.402 0.188 N 0.333 0.077 0.18274738541 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 5.57E-05 None 0 None 0 0 0
I/M rs886043518 -0.402 0.188 N 0.333 0.077 0.18274738541 gnomAD-4.0.0 3.18369E-06 None None None None I None 0 0 None 0 2.77423E-05 None 0 2.41779E-04 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
I/A 0.1178 likely_benign 0.1606 benign -0.588 Destabilizing 0.001 N 0.136 neutral None None None None I
I/C 0.4177 ambiguous 0.5018 ambiguous -0.674 Destabilizing 0.555 D 0.293 neutral None None None None I
I/D 0.3398 likely_benign 0.4415 ambiguous -0.415 Destabilizing 0.555 D 0.377 neutral None None None None I
I/E 0.2595 likely_benign 0.3263 benign -0.505 Destabilizing 0.555 D 0.383 neutral None None None None I
I/F 0.1286 likely_benign 0.1598 benign -0.617 Destabilizing 0.188 N 0.325 neutral N 0.468922795 None None I
I/G 0.2596 likely_benign 0.3462 ambiguous -0.735 Destabilizing 0.149 N 0.411 neutral None None None None I
I/H 0.2802 likely_benign 0.3585 ambiguous 0.002 Stabilizing 0.935 D 0.299 neutral None None None None I
I/K 0.1877 likely_benign 0.2362 benign -0.43 Destabilizing 0.555 D 0.399 neutral None None None None I
I/L 0.0576 likely_benign 0.062 benign -0.318 Destabilizing None N 0.09 neutral N 0.353727185 None None I
I/M 0.0746 likely_benign 0.0855 benign -0.499 Destabilizing 0.188 N 0.333 neutral N 0.495642014 None None I
I/N 0.13 likely_benign 0.182 benign -0.259 Destabilizing 0.741 D 0.356 neutral N 0.457603701 None None I
I/P 0.3815 ambiguous 0.4924 ambiguous -0.376 Destabilizing 0.555 D 0.367 neutral None None None None I
I/Q 0.1851 likely_benign 0.2405 benign -0.481 Destabilizing 0.791 D 0.344 neutral None None None None I
I/R 0.1623 likely_benign 0.1954 benign 0.139 Stabilizing 0.555 D 0.361 neutral None None None None I
I/S 0.1349 likely_benign 0.1745 benign -0.646 Destabilizing 0.062 N 0.371 neutral N 0.439497943 None None I
I/T 0.1299 likely_benign 0.1771 benign -0.632 Destabilizing 0.117 N 0.353 neutral N 0.444442403 None None I
I/V 0.0561 likely_benign 0.06 benign -0.376 Destabilizing None N 0.089 neutral N 0.416469155 None None I
I/W 0.61 likely_pathogenic 0.6768 pathogenic -0.636 Destabilizing 0.935 D 0.346 neutral None None None None I
I/Y 0.3371 likely_benign 0.3974 ambiguous -0.4 Destabilizing 0.555 D 0.32 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.