Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC28478764;8765;8766 chr2:178770162;178770161;178770160chr2:179634889;179634888;179634887
N2AB28478764;8765;8766 chr2:178770162;178770161;178770160chr2:179634889;179634888;179634887
N2A28478764;8765;8766 chr2:178770162;178770161;178770160chr2:179634889;179634888;179634887
N2B28018626;8627;8628 chr2:178770162;178770161;178770160chr2:179634889;179634888;179634887
Novex-128018626;8627;8628 chr2:178770162;178770161;178770160chr2:179634889;179634888;179634887
Novex-228018626;8627;8628 chr2:178770162;178770161;178770160chr2:179634889;179634888;179634887
Novex-328478764;8765;8766 chr2:178770162;178770161;178770160chr2:179634889;179634888;179634887

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAA
  • RefSeq wild type template codon: TTT
  • Domain: Ig-18
  • Domain position: 53
  • Structural Position: 134
  • Q(SASA): 0.2073
  • 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
K/E rs794729582 -0.117 0.996 N 0.641 0.441 0.477219869099 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 5.44E-05 None 0 None 0 0 0
K/E rs794729582 -0.117 0.996 N 0.641 0.441 0.477219869099 gnomAD-4.0.0 2.73624E-06 None None None None N None 0 0 None 0 2.51915E-05 None 0 0 2.69788E-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
K/A 0.969 likely_pathogenic 0.9708 pathogenic -0.64 Destabilizing 0.998 D 0.651 neutral None None None None N
K/C 0.978 likely_pathogenic 0.9817 pathogenic -0.686 Destabilizing 1.0 D 0.684 prob.neutral None None None None N
K/D 0.9893 likely_pathogenic 0.9879 pathogenic -0.172 Destabilizing 1.0 D 0.709 prob.delet. None None None None N
K/E 0.9617 likely_pathogenic 0.9702 pathogenic -0.042 Destabilizing 0.996 D 0.641 neutral N 0.503896204 None None N
K/F 0.994 likely_pathogenic 0.9938 pathogenic -0.224 Destabilizing 1.0 D 0.669 neutral None None None None N
K/G 0.9583 likely_pathogenic 0.9351 pathogenic -1.028 Destabilizing 1.0 D 0.641 neutral None None None None N
K/H 0.8628 likely_pathogenic 0.8617 pathogenic -1.324 Destabilizing 1.0 D 0.658 neutral None None None None N
K/I 0.978 likely_pathogenic 0.9833 pathogenic 0.377 Stabilizing 1.0 D 0.699 prob.neutral D 0.602777295 None None N
K/L 0.9368 likely_pathogenic 0.9472 pathogenic 0.377 Stabilizing 1.0 D 0.641 neutral None None None None N
K/M 0.8692 likely_pathogenic 0.9002 pathogenic 0.251 Stabilizing 1.0 D 0.656 neutral None None None None N
K/N 0.9637 likely_pathogenic 0.9645 pathogenic -0.598 Destabilizing 0.999 D 0.683 prob.neutral N 0.508332558 None None N
K/P 0.991 likely_pathogenic 0.989 pathogenic 0.068 Stabilizing 1.0 D 0.691 prob.neutral None None None None N
K/Q 0.792 likely_pathogenic 0.8302 pathogenic -0.644 Destabilizing 0.999 D 0.683 prob.neutral D 0.573545 None None N
K/R 0.1956 likely_benign 0.2073 benign -0.699 Destabilizing 0.64 D 0.261 neutral N 0.491818601 None None N
K/S 0.9816 likely_pathogenic 0.9806 pathogenic -1.286 Destabilizing 0.998 D 0.67 neutral None None None None N
K/T 0.9155 likely_pathogenic 0.9405 pathogenic -0.943 Destabilizing 0.999 D 0.661 neutral N 0.512302271 None None N
K/V 0.963 likely_pathogenic 0.9728 pathogenic 0.068 Stabilizing 1.0 D 0.716 prob.delet. None None None None N
K/W 0.9894 likely_pathogenic 0.9892 pathogenic -0.091 Destabilizing 1.0 D 0.681 prob.neutral None None None None N
K/Y 0.9771 likely_pathogenic 0.9761 pathogenic 0.198 Stabilizing 1.0 D 0.687 prob.neutral 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.