Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3325099973;99974;99975 chr2:178537459;178537458;178537457chr2:179402186;179402185;179402184
N2AB3160995050;95051;95052 chr2:178537459;178537458;178537457chr2:179402186;179402185;179402184
N2A3068292269;92270;92271 chr2:178537459;178537458;178537457chr2:179402186;179402185;179402184
N2B2418572778;72779;72780 chr2:178537459;178537458;178537457chr2:179402186;179402185;179402184
Novex-12431073153;73154;73155 chr2:178537459;178537458;178537457chr2:179402186;179402185;179402184
Novex-22437773354;73355;73356 chr2:178537459;178537458;178537457chr2:179402186;179402185;179402184
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: H
  • RefSeq wild type transcript codon: CAC
  • RefSeq wild type template codon: GTG
  • Domain: Ig-157
  • Domain position: 48
  • Structural Position: 134
  • Q(SASA): 0.259
  • 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
H/R rs1395830573 -1.039 0.465 N 0.319 0.178 0.225215365344 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.6E-05 None 0 None 0 0 0
H/R rs1395830573 -1.039 0.465 N 0.319 0.178 0.225215365344 gnomAD-4.0.0 3.18457E-06 None None None None N None 0 0 None 0 2.77701E-05 None 0 0 0 1.4339E-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
H/A 0.4684 ambiguous 0.5322 ambiguous -0.484 Destabilizing 0.343 N 0.493 neutral None None None None N
H/C 0.3653 ambiguous 0.3998 ambiguous 0.297 Stabilizing 0.993 D 0.518 neutral None None None None N
H/D 0.3383 likely_benign 0.384 ambiguous -0.668 Destabilizing 0.351 N 0.423 neutral N 0.436124856 None None N
H/E 0.5214 ambiguous 0.5477 ambiguous -0.57 Destabilizing 0.331 N 0.351 neutral None None None None N
H/F 0.4072 ambiguous 0.4535 ambiguous 0.826 Stabilizing 0.986 D 0.453 neutral None None None None N
H/G 0.4745 ambiguous 0.5386 ambiguous -0.837 Destabilizing 0.705 D 0.521 neutral None None None None N
H/I 0.5684 likely_pathogenic 0.6232 pathogenic 0.488 Stabilizing 0.942 D 0.519 neutral None None None None N
H/K 0.4504 ambiguous 0.4488 ambiguous -0.215 Destabilizing 0.322 N 0.433 neutral None None None None N
H/L 0.248 likely_benign 0.2651 benign 0.488 Stabilizing 0.634 D 0.514 neutral N 0.486343033 None None N
H/M 0.6237 likely_pathogenic 0.6481 pathogenic 0.248 Stabilizing 0.942 D 0.517 neutral None None None None N
H/N 0.0758 likely_benign 0.1132 benign -0.524 Destabilizing 0.351 N 0.333 neutral N 0.415384224 None None N
H/P 0.7028 likely_pathogenic 0.6996 pathogenic 0.184 Stabilizing 0.726 D 0.513 neutral N 0.456886917 None None N
H/Q 0.2917 likely_benign 0.3458 ambiguous -0.317 Destabilizing 0.024 N 0.242 neutral N 0.447862002 None None N
H/R 0.2281 likely_benign 0.248 benign -0.722 Destabilizing 0.465 N 0.319 neutral N 0.456020126 None None N
H/S 0.2947 likely_benign 0.3751 ambiguous -0.424 Destabilizing 0.031 N 0.255 neutral None None None None N
H/T 0.3557 ambiguous 0.4372 ambiguous -0.217 Destabilizing 0.264 N 0.503 neutral None None None None N
H/V 0.5065 ambiguous 0.5489 ambiguous 0.184 Stabilizing 0.706 D 0.529 neutral None None None None N
H/W 0.6205 likely_pathogenic 0.6064 pathogenic 1.116 Stabilizing 0.999 D 0.531 neutral None None None None N
H/Y 0.1174 likely_benign 0.1378 benign 1.129 Stabilizing 0.831 D 0.388 neutral N 0.408498325 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.