Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC996430115;30116;30117 chr2:178704582;178704581;178704580chr2:179569309;179569308;179569307
N2AB964729164;29165;29166 chr2:178704582;178704581;178704580chr2:179569309;179569308;179569307
N2A872026383;26384;26385 chr2:178704582;178704581;178704580chr2:179569309;179569308;179569307
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: Q
  • RefSeq wild type transcript codon: CAA
  • RefSeq wild type template codon: GTT
  • Domain: Ig-84
  • Domain position: 65
  • Structural Position: 145
  • Q(SASA): 0.123
  • 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
Q/P None None 0.999 None 0.467 0.587 0.52674250279 gnomAD-4.0.0 1.59238E-06 None None None None N None 0 0 None 0 0 None 1.88359E-05 0 0 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
Q/A 0.3248 likely_benign 0.3551 ambiguous -0.293 Destabilizing 0.964 D 0.489 neutral None None None None N
Q/C 0.7599 likely_pathogenic 0.7778 pathogenic 0.178 Stabilizing 1.0 D 0.695 prob.neutral None None None None N
Q/D 0.4889 ambiguous 0.5018 ambiguous -1.235 Destabilizing 0.993 D 0.419 neutral None None None None N
Q/E 0.1092 likely_benign 0.1066 benign -1.153 Destabilizing 0.977 D 0.419 neutral None None None None N
Q/F 0.7756 likely_pathogenic 0.7765 pathogenic -0.185 Destabilizing 0.999 D 0.677 prob.neutral None None None None N
Q/G 0.4195 ambiguous 0.4186 ambiguous -0.639 Destabilizing 0.993 D 0.503 neutral None None None None N
Q/H 0.2763 likely_benign 0.2817 benign -0.815 Destabilizing 0.999 D 0.43 neutral None None None None N
Q/I 0.5122 ambiguous 0.5556 ambiguous 0.578 Stabilizing 0.996 D 0.667 neutral None None None None N
Q/K 0.1174 likely_benign 0.1213 benign -0.375 Destabilizing 0.99 D 0.462 neutral None None None None N
Q/L 0.1906 likely_benign 0.1901 benign 0.578 Stabilizing 0.98 D 0.501 neutral None None None None N
Q/M 0.4894 ambiguous 0.5071 ambiguous 1.161 Stabilizing 0.999 D 0.43 neutral None None None None N
Q/N 0.3539 ambiguous 0.3547 ambiguous -0.954 Destabilizing 0.993 D 0.413 neutral None None None None N
Q/P 0.5981 likely_pathogenic 0.5834 pathogenic 0.32 Stabilizing 0.999 D 0.467 neutral None None None None N
Q/R 0.1379 likely_benign 0.1389 benign -0.336 Destabilizing 0.99 D 0.473 neutral None None None None N
Q/S 0.3177 likely_benign 0.3295 benign -0.902 Destabilizing 0.971 D 0.439 neutral None None None None N
Q/T 0.2798 likely_benign 0.2919 benign -0.645 Destabilizing 0.469 N 0.23 neutral None None None None N
Q/V 0.3663 ambiguous 0.4063 ambiguous 0.32 Stabilizing 0.985 D 0.501 neutral None None None None N
Q/W 0.7835 likely_pathogenic 0.7793 pathogenic -0.228 Destabilizing 1.0 D 0.697 prob.neutral None None None None N
Q/Y 0.6456 likely_pathogenic 0.6464 pathogenic 0.086 Stabilizing 0.999 D 0.509 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.