Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1555246879;46880;46881 chr2:178619663;178619662;178619661chr2:179484390;179484389;179484388
N2AB1391141956;41957;41958 chr2:178619663;178619662;178619661chr2:179484390;179484389;179484388
N2A1298439175;39176;39177 chr2:178619663;178619662;178619661chr2:179484390;179484389;179484388
N2B648719684;19685;19686 chr2:178619663;178619662;178619661chr2:179484390;179484389;179484388
Novex-1661220059;20060;20061 chr2:178619663;178619662;178619661chr2:179484390;179484389;179484388
Novex-2667920260;20261;20262 chr2:178619663;178619662;178619661chr2:179484390;179484389;179484388
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATT
  • RefSeq wild type template codon: TAA
  • Domain: Ig-107
  • Domain position: 73
  • Structural Position: 157
  • Q(SASA): 0.1258
  • 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
I/T rs1292128337 -2.11 0.822 N 0.678 0.285 0.675543170505 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
I/T rs1292128337 -2.11 0.822 N 0.678 0.285 0.675543170505 gnomAD-4.0.0 3.18972E-06 None None None None N None 0 0 None 0 0 None 0 2.42365E-04 2.86513E-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
I/A 0.435 ambiguous 0.4327 ambiguous -2.295 Highly Destabilizing 0.754 D 0.681 prob.neutral None None None None N
I/C 0.7744 likely_pathogenic 0.7508 pathogenic -1.494 Destabilizing 0.994 D 0.711 prob.delet. None None None None N
I/D 0.9387 likely_pathogenic 0.9249 pathogenic -2.358 Highly Destabilizing 0.993 D 0.813 deleterious None None None None N
I/E 0.7706 likely_pathogenic 0.729 pathogenic -2.166 Highly Destabilizing 0.978 D 0.805 deleterious None None None None N
I/F 0.2431 likely_benign 0.2453 benign -1.29 Destabilizing 0.942 D 0.665 neutral N 0.510809462 None None N
I/G 0.8698 likely_pathogenic 0.8476 pathogenic -2.809 Highly Destabilizing 0.978 D 0.797 deleterious None None None None N
I/H 0.6245 likely_pathogenic 0.6009 pathogenic -2.226 Highly Destabilizing 0.998 D 0.797 deleterious None None None None N
I/K 0.3815 ambiguous 0.3808 ambiguous -1.674 Destabilizing 0.978 D 0.801 deleterious None None None None N
I/L 0.1564 likely_benign 0.1593 benign -0.832 Destabilizing 0.294 N 0.423 neutral N 0.496345655 None None N
I/M 0.1431 likely_benign 0.1468 benign -0.774 Destabilizing 0.942 D 0.661 neutral N 0.510809462 None None N
I/N 0.6222 likely_pathogenic 0.6014 pathogenic -1.882 Destabilizing 0.99 D 0.82 deleterious N 0.508416315 None None N
I/P 0.982 likely_pathogenic 0.9825 pathogenic -1.298 Destabilizing 0.993 D 0.817 deleterious None None None None N
I/Q 0.51 ambiguous 0.4612 ambiguous -1.793 Destabilizing 0.993 D 0.815 deleterious None None None None N
I/R 0.2992 likely_benign 0.296 benign -1.364 Destabilizing 0.978 D 0.82 deleterious None None None None N
I/S 0.4599 ambiguous 0.4463 ambiguous -2.586 Highly Destabilizing 0.942 D 0.754 deleterious N 0.506197063 None None N
I/T 0.2084 likely_benign 0.2303 benign -2.258 Highly Destabilizing 0.822 D 0.678 prob.neutral N 0.493388236 None None N
I/V 0.0824 likely_benign 0.0882 benign -1.298 Destabilizing 0.006 N 0.299 neutral N 0.431149027 None None N
I/W 0.8305 likely_pathogenic 0.8286 pathogenic -1.656 Destabilizing 0.998 D 0.755 deleterious None None None None N
I/Y 0.6776 likely_pathogenic 0.6431 pathogenic -1.36 Destabilizing 0.978 D 0.73 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.