Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC613818637;18638;18639 chr2:178729841;178729840;178729839chr2:179594568;179594567;179594566
N2AB582117686;17687;17688 chr2:178729841;178729840;178729839chr2:179594568;179594567;179594566
N2A489414905;14906;14907 chr2:178729841;178729840;178729839chr2:179594568;179594567;179594566
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: TCT
  • RefSeq wild type template codon: AGA
  • Domain: Ig-45
  • Domain position: 34
  • Structural Position: 47
  • Q(SASA): 0.1511
  • 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
S/F None None 0.473 N 0.585 0.391 0.517765160837 gnomAD-4.0.0 6.84262E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15934E-05 0
S/Y rs727504477 -0.123 0.01 N 0.417 0.336 0.468420198123 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.88E-06 0
S/Y rs727504477 -0.123 0.01 N 0.417 0.336 0.468420198123 gnomAD-4.0.0 7.52688E-06 None None None None N None 0 0 None 0 0 None 0 0 9.89447E-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
S/A 0.0851 likely_benign 0.0846 benign -0.64 Destabilizing 0.002 N 0.193 neutral N 0.496813529 None None N
S/C 0.1551 likely_benign 0.171 benign -0.306 Destabilizing 0.927 D 0.585 neutral D 0.526021715 None None N
S/D 0.3308 likely_benign 0.3298 benign -0.351 Destabilizing 0.329 N 0.448 neutral None None None None N
S/E 0.4547 ambiguous 0.4482 ambiguous -0.286 Destabilizing 0.495 N 0.437 neutral None None None None N
S/F 0.1578 likely_benign 0.1605 benign -0.566 Destabilizing 0.473 N 0.585 neutral N 0.510764261 None None N
S/G 0.1133 likely_benign 0.1177 benign -0.962 Destabilizing 0.329 N 0.43 neutral None None None None N
S/H 0.2655 likely_benign 0.2654 benign -1.355 Destabilizing 0.893 D 0.593 neutral None None None None N
S/I 0.1519 likely_benign 0.1494 benign 0.13 Stabilizing 0.704 D 0.58 neutral None None None None N
S/K 0.5015 ambiguous 0.4868 ambiguous -0.58 Destabilizing 0.495 N 0.439 neutral None None None None N
S/L 0.1042 likely_benign 0.1045 benign 0.13 Stabilizing 0.329 N 0.545 neutral None None None None N
S/M 0.2136 likely_benign 0.2121 benign 0.217 Stabilizing 0.981 D 0.583 neutral None None None None N
S/N 0.1198 likely_benign 0.1227 benign -0.69 Destabilizing 0.013 N 0.22 neutral None None None None N
S/P 0.8175 likely_pathogenic 0.7956 pathogenic -0.091 Destabilizing 0.784 D 0.593 neutral N 0.51360377 None None N
S/Q 0.4116 ambiguous 0.4114 ambiguous -0.665 Destabilizing 0.828 D 0.547 neutral None None None None N
S/R 0.3673 ambiguous 0.3711 ambiguous -0.631 Destabilizing 0.704 D 0.577 neutral None None None None N
S/T 0.0783 likely_benign 0.0783 benign -0.601 Destabilizing 0.003 N 0.181 neutral N 0.395745245 None None N
S/V 0.174 likely_benign 0.174 benign -0.091 Destabilizing 0.329 N 0.549 neutral None None None None N
S/W 0.2738 likely_benign 0.2785 benign -0.665 Destabilizing 0.985 D 0.617 neutral None None None None N
S/Y 0.16 likely_benign 0.1604 benign -0.347 Destabilizing 0.01 N 0.417 neutral N 0.475747611 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.