Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1666250209;50210;50211 chr2:178612541;178612540;178612539chr2:179477268;179477267;179477266
N2AB1502145286;45287;45288 chr2:178612541;178612540;178612539chr2:179477268;179477267;179477266
N2A1409442505;42506;42507 chr2:178612541;178612540;178612539chr2:179477268;179477267;179477266
N2B759723014;23015;23016 chr2:178612541;178612540;178612539chr2:179477268;179477267;179477266
Novex-1772223389;23390;23391 chr2:178612541;178612540;178612539chr2:179477268;179477267;179477266
Novex-2778923590;23591;23592 chr2:178612541;178612540;178612539chr2:179477268;179477267;179477266
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: N
  • RefSeq wild type transcript codon: AAT
  • RefSeq wild type template codon: TTA
  • Domain: Fn3-9
  • Domain position: 12
  • Structural Position: 14
  • Q(SASA): 0.569
  • 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
N/D rs2056522991 None 0.978 N 0.471 0.357 0.181679512989 gnomAD-3.1.2 6.59E-06 None None None None N None 0 6.56E-05 0 0 0 None 0 0 0 0 0
N/D rs2056522991 None 0.978 N 0.471 0.357 0.181679512989 gnomAD-4.0.0 6.58623E-06 None None None None N None 0 6.56254E-05 None 0 0 None 0 0 0 0 0
N/S rs36043230 0.074 0.63 N 0.166 0.133 0.128392430309 gnomAD-2.1.1 4.12E-06 None None None None N None 6.61E-05 0 None 0 0 None 0 None 0 0 0
N/S rs36043230 0.074 0.63 N 0.166 0.133 0.128392430309 gnomAD-3.1.2 1.32E-05 None None None None N None 2.42E-05 6.56E-05 0 0 0 None 0 0 0 0 0
N/S rs36043230 0.074 0.63 N 0.166 0.133 0.128392430309 gnomAD-4.0.0 1.86158E-06 None None None None N None 2.67373E-05 1.67107E-05 None 0 0 None 0 0 0 0 0
N/T rs36043230 0.272 0.956 N 0.465 0.328 None gnomAD-2.1.1 1.57647E-02 None None None None N None 2.89551E-03 9.19212E-03 None 5.50089E-02 5.24E-05 None 7.7652E-03 None 1.42456E-02 2.1363E-02 1.94675E-02
N/T rs36043230 0.272 0.956 N 0.465 0.328 None gnomAD-3.1.2 1.43738E-02 None None None None N None 3.62336E-03 1.10265E-02 4.38597E-03 5.33449E-02 0 None 1.39754E-02 2.8481E-02 2.12475E-02 6.42354E-03 2.15517E-02
N/T rs36043230 0.272 0.956 N 0.465 0.328 None 1000 genomes 6.38978E-03 None None None None N None 2.3E-03 8.6E-03 None None 0 1.69E-02 None None None 6.1E-03 None
N/T rs36043230 0.272 0.956 N 0.465 0.328 None gnomAD-4.0.0 1.95167E-02 None None None None N None 3.33672E-03 1.0441E-02 None 5.31584E-02 2.24578E-05 None 1.42754E-02 3.25728E-02 2.1871E-02 8.08048E-03 2.20954E-02

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
N/A 0.4838 ambiguous 0.4129 ambiguous -0.383 Destabilizing 0.967 D 0.455 neutral None None None None N
N/C 0.6702 likely_pathogenic 0.6161 pathogenic 0.31 Stabilizing 1.0 D 0.643 neutral None None None None N
N/D 0.3605 ambiguous 0.4113 ambiguous 0.192 Stabilizing 0.978 D 0.471 neutral N 0.39539209 None None N
N/E 0.6994 likely_pathogenic 0.7722 pathogenic 0.165 Stabilizing 0.983 D 0.51 neutral None None None None N
N/F 0.9016 likely_pathogenic 0.8927 pathogenic -0.704 Destabilizing 0.999 D 0.672 neutral None None None None N
N/G 0.4643 ambiguous 0.3976 ambiguous -0.57 Destabilizing 0.983 D 0.463 neutral None None None None N
N/H 0.2109 likely_benign 0.2214 benign -0.564 Destabilizing 0.999 D 0.572 neutral N 0.485618798 None None N
N/I 0.7759 likely_pathogenic 0.7298 pathogenic 0.022 Stabilizing 0.997 D 0.68 prob.neutral N 0.520468615 None None N
N/K 0.6962 likely_pathogenic 0.7805 pathogenic 0.12 Stabilizing 0.978 D 0.523 neutral N 0.483358926 None None N
N/L 0.6694 likely_pathogenic 0.6432 pathogenic 0.022 Stabilizing 0.998 D 0.613 neutral None None None None N
N/M 0.7861 likely_pathogenic 0.7351 pathogenic 0.36 Stabilizing 1.0 D 0.589 neutral None None None None N
N/P 0.9672 likely_pathogenic 0.9698 pathogenic -0.086 Destabilizing 0.998 D 0.646 neutral None None None None N
N/Q 0.6163 likely_pathogenic 0.6417 pathogenic -0.369 Destabilizing 0.998 D 0.598 neutral None None None None N
N/R 0.676 likely_pathogenic 0.7686 pathogenic 0.163 Stabilizing 0.998 D 0.588 neutral None None None None N
N/S 0.1114 likely_benign 0.0943 benign -0.173 Destabilizing 0.63 D 0.166 neutral N 0.461722907 None None N
N/T 0.2553 likely_benign 0.2119 benign -0.047 Destabilizing 0.956 D 0.465 neutral N 0.478025906 None None N
N/V 0.7046 likely_pathogenic 0.6447 pathogenic -0.086 Destabilizing 0.998 D 0.677 prob.neutral None None None None N
N/W 0.9635 likely_pathogenic 0.9676 pathogenic -0.653 Destabilizing 1.0 D 0.639 neutral None None None None N
N/Y 0.5712 likely_pathogenic 0.5805 pathogenic -0.395 Destabilizing 0.999 D 0.639 neutral N 0.500152606 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.