Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2620378832;78833;78834 chr2:178567525;178567524;178567523chr2:179432252;179432251;179432250
N2AB2456273909;73910;73911 chr2:178567525;178567524;178567523chr2:179432252;179432251;179432250
N2A2363571128;71129;71130 chr2:178567525;178567524;178567523chr2:179432252;179432251;179432250
N2B1713851637;51638;51639 chr2:178567525;178567524;178567523chr2:179432252;179432251;179432250
Novex-11726352012;52013;52014 chr2:178567525;178567524;178567523chr2:179432252;179432251;179432250
Novex-21733052213;52214;52215 chr2:178567525;178567524;178567523chr2:179432252;179432251;179432250
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-137
  • Domain position: 11
  • Structural Position: 13
  • Q(SASA): 0.2839
  • 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/T rs766839297 None 0.684 N 0.439 0.423 0.70159519113 gnomAD-4.0.0 1.59545E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.44155E-05 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 0.4598 ambiguous 0.459 ambiguous -2.261 Highly Destabilizing 0.543 D 0.407 neutral None None None None I
I/C 0.8316 likely_pathogenic 0.8344 pathogenic -1.711 Destabilizing 0.996 D 0.405 neutral None None None None I
I/D 0.9519 likely_pathogenic 0.9577 pathogenic -2.04 Highly Destabilizing 0.984 D 0.539 neutral None None None None I
I/E 0.858 likely_pathogenic 0.8643 pathogenic -1.877 Destabilizing 0.953 D 0.544 neutral None None None None I
I/F 0.2773 likely_benign 0.2851 benign -1.327 Destabilizing 0.007 N 0.285 neutral N 0.506750007 None None I
I/G 0.9091 likely_pathogenic 0.9153 pathogenic -2.75 Highly Destabilizing 0.953 D 0.538 neutral None None None None I
I/H 0.8093 likely_pathogenic 0.817 pathogenic -1.971 Destabilizing 0.996 D 0.525 neutral None None None None I
I/K 0.7221 likely_pathogenic 0.7373 pathogenic -1.906 Destabilizing 0.953 D 0.544 neutral None None None None I
I/L 0.119 likely_benign 0.1234 benign -0.899 Destabilizing 0.001 N 0.086 neutral N 0.452595818 None None I
I/M 0.1278 likely_benign 0.1258 benign -0.845 Destabilizing 0.884 D 0.431 neutral D 0.526864291 None None I
I/N 0.766 likely_pathogenic 0.7834 pathogenic -2.085 Highly Destabilizing 0.979 D 0.551 neutral N 0.514093841 None None I
I/P 0.9487 likely_pathogenic 0.9577 pathogenic -1.328 Destabilizing 0.984 D 0.549 neutral None None None None I
I/Q 0.7712 likely_pathogenic 0.7684 pathogenic -2.022 Highly Destabilizing 0.984 D 0.538 neutral None None None None I
I/R 0.6472 likely_pathogenic 0.6697 pathogenic -1.487 Destabilizing 0.953 D 0.545 neutral None None None None I
I/S 0.6778 likely_pathogenic 0.6912 pathogenic -2.801 Highly Destabilizing 0.815 D 0.513 neutral N 0.498102727 None None I
I/T 0.3235 likely_benign 0.3322 benign -2.488 Highly Destabilizing 0.684 D 0.439 neutral N 0.511337478 None None I
I/V 0.0634 likely_benign 0.0641 benign -1.328 Destabilizing 0.164 N 0.299 neutral N 0.412034488 None None I
I/W 0.8909 likely_pathogenic 0.8951 pathogenic -1.556 Destabilizing 0.996 D 0.534 neutral None None None None I
I/Y 0.7548 likely_pathogenic 0.7634 pathogenic -1.303 Destabilizing 0.835 D 0.448 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.