Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC959929020;29021;29022 chr2:178707772;178707771;178707770chr2:179572499;179572498;179572497
N2AB928228069;28070;28071 chr2:178707772;178707771;178707770chr2:179572499;179572498;179572497
N2A835525288;25289;25290 chr2:178707772;178707771;178707770chr2:179572499;179572498;179572497
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: V
  • RefSeq wild type transcript codon: GTA
  • RefSeq wild type template codon: CAT
  • Domain: Ig-82
  • Domain position: 10
  • Structural Position: 13
  • Q(SASA): 0.2886
  • 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
V/I rs887090503 None 0.201 None 0.382 0.131 0.388334884743 gnomAD-4.0.0 1.36882E-06 None None None None N None 0 2.23624E-05 None 0 0 None 0 0 8.99735E-07 0 0
V/L rs887090503 -0.281 0.002 None 0.065 0.196 0.312001716656 gnomAD-2.1.1 7.14E-06 None None None None N None 4.13E-05 0 None 0 0 None 0 None 0 7.81E-06 0
V/L rs887090503 -0.281 0.002 None 0.065 0.196 0.312001716656 gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
V/L rs887090503 -0.281 0.002 None 0.065 0.196 0.312001716656 gnomAD-4.0.0 9.29766E-06 None None None None N None 1.33454E-05 0 None 0 0 None 0 0 1.18697E-05 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
V/A 0.1222 likely_benign 0.1305 benign -1.005 Destabilizing 0.002 N 0.079 neutral None None None None N
V/C 0.7099 likely_pathogenic 0.7024 pathogenic -0.848 Destabilizing 0.977 D 0.343 neutral None None None None N
V/D 0.3396 likely_benign 0.3232 benign -0.502 Destabilizing 0.92 D 0.461 neutral None None None None N
V/E 0.2467 likely_benign 0.2378 benign -0.53 Destabilizing 0.81 D 0.415 neutral None None None None N
V/F 0.162 likely_benign 0.1427 benign -0.796 Destabilizing 0.85 D 0.351 neutral None None None None N
V/G 0.2026 likely_benign 0.1964 benign -1.278 Destabilizing 0.379 N 0.439 neutral None None None None N
V/H 0.4901 ambiguous 0.4791 ambiguous -0.882 Destabilizing 0.992 D 0.433 neutral None None None None N
V/I 0.0765 likely_benign 0.0773 benign -0.385 Destabilizing 0.201 N 0.382 neutral None None None None N
V/K 0.2573 likely_benign 0.2462 benign -0.882 Destabilizing 0.617 D 0.386 neutral None None None None N
V/L 0.1339 likely_benign 0.1334 benign -0.385 Destabilizing 0.002 N 0.065 neutral None None None None N
V/M 0.1079 likely_benign 0.1024 benign -0.396 Destabilizing 0.127 N 0.27 neutral None None None None N
V/N 0.2571 likely_benign 0.2612 benign -0.666 Destabilizing 0.92 D 0.466 neutral None None None None N
V/P 0.7691 likely_pathogenic 0.7437 pathogenic -0.554 Destabilizing 0.92 D 0.42 neutral None None None None N
V/Q 0.2484 likely_benign 0.2459 benign -0.806 Destabilizing 0.92 D 0.418 neutral None None None None N
V/R 0.2417 likely_benign 0.2237 benign -0.462 Destabilizing 0.85 D 0.461 neutral None None None None N
V/S 0.1746 likely_benign 0.1884 benign -1.181 Destabilizing 0.447 N 0.399 neutral None None None None N
V/T 0.1386 likely_benign 0.1482 benign -1.093 Destabilizing 0.617 D 0.309 neutral None None None None N
V/W 0.8069 likely_pathogenic 0.7529 pathogenic -0.959 Destabilizing 0.992 D 0.489 neutral None None None None N
V/Y 0.5278 ambiguous 0.4864 ambiguous -0.649 Destabilizing 0.972 D 0.367 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.