Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC49370;371;372 chr2:178802288;178802287;178802286chr2:179667015;179667014;179667013
N2AB49370;371;372 chr2:178802288;178802287;178802286chr2:179667015;179667014;179667013
N2A49370;371;372 chr2:178802288;178802287;178802286chr2:179667015;179667014;179667013
N2B49370;371;372 chr2:178802288;178802287;178802286chr2:179667015;179667014;179667013
Novex-149370;371;372 chr2:178802288;178802287;178802286chr2:179667015;179667014;179667013
Novex-249370;371;372 chr2:178802288;178802287;178802286chr2:179667015;179667014;179667013
Novex-349370;371;372 chr2:178802288;178802287;178802286chr2:179667015;179667014;179667013

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: TCC
  • RefSeq wild type template codon: AGG
  • Domain: Ig-1
  • Domain position: 44
  • Structural Position: 73
  • Q(SASA): 0.495
  • 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 rs368887734 -0.913 0.926 D 0.442 0.442 None gnomAD-2.1.1 3.98E-06 None None None 0.177(TCAP) N None 0 0 None 0 0 None 0 None 0 8.8E-06 0
S/F rs368887734 -0.913 0.926 D 0.442 0.442 None gnomAD-3.1.2 6.57E-06 None None None 0.177(TCAP) N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
S/F rs368887734 -0.913 0.926 D 0.442 0.442 None gnomAD-4.0.0 6.57004E-06 None None None 0.177(TCAP) N None 0 0 None 0 0 None 0 0 1.46985E-05 0 0
S/P rs531066665 -0.478 0.489 D 0.347 0.19 None gnomAD-2.1.1 1.19E-05 None None None 0.001(TCAP) N None 6.15E-05 0 None 0 0 None 0 None 0 1.76E-05 0
S/P rs531066665 -0.478 0.489 D 0.347 0.19 None gnomAD-3.1.2 6.57E-06 None None None 0.001(TCAP) N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
S/P rs531066665 -0.478 0.489 D 0.347 0.19 None 1000 genomes 1.99681E-04 None None None 0.001(TCAP) N None 0 0 None None 0 1E-03 None None None 0 None
S/P rs531066665 -0.478 0.489 D 0.347 0.19 None gnomAD-4.0.0 3.40742E-05 None None None 0.001(TCAP) N None 3.99808E-05 0 None 0 0 None 0 0 4.40676E-05 0 0
S/Y rs368887734 None 0.975 D 0.434 0.44 0.616854986462 gnomAD-3.1.2 1.97E-05 None None None 0.422(TCAP) N None 7.24E-05 0 0 0 0 None 0 0 0 0 0
S/Y rs368887734 None 0.975 D 0.434 0.44 0.616854986462 gnomAD-4.0.0 5.12205E-06 None None None 0.422(TCAP) N None 6.76293E-05 0 None 0 0 None 0 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
S/A 0.0824 likely_benign 0.0956 benign -0.216 Destabilizing None N 0.153 neutral N 0.483606894 None 0.001(TCAP) N
S/C 0.5596 ambiguous 0.6568 pathogenic -0.228 Destabilizing 0.771 D 0.361 neutral N 0.446754926 None 0.199(TCAP) N
S/D 0.4034 ambiguous 0.5801 pathogenic -0.006 Destabilizing 0.559 D 0.38 neutral None None None 0.022(TCAP) N
S/E 0.4901 ambiguous 0.6427 pathogenic -0.121 Destabilizing 0.467 N 0.4 neutral None None None -0.032(TCAP) N
S/F 0.3917 ambiguous 0.5475 ambiguous -0.999 Destabilizing 0.926 D 0.442 neutral D 0.595412548 None 0.177(TCAP) N
S/G 0.1261 likely_benign 0.1544 benign -0.238 Destabilizing 0.193 N 0.334 neutral None None None -0.011(TCAP) N
S/H 0.538 ambiguous 0.6709 pathogenic -0.673 Destabilizing 0.981 D 0.36 neutral None None None 0.6(TCAP) N
S/I 0.3342 likely_benign 0.4729 ambiguous -0.285 Destabilizing 0.701 D 0.375 neutral None None None -0.011(TCAP) N
S/K 0.7337 likely_pathogenic 0.8624 pathogenic -0.29 Destabilizing 0.701 D 0.398 neutral None None None 0.214(TCAP) N
S/L 0.2078 likely_benign 0.2818 benign -0.285 Destabilizing 0.326 N 0.393 neutral None None None -0.011(TCAP) N
S/M 0.3576 ambiguous 0.4558 ambiguous -0.069 Destabilizing 0.943 D 0.359 neutral None None None 0.156(TCAP) N
S/N 0.1849 likely_benign 0.2744 benign -0.032 Destabilizing 0.13 N 0.453 neutral None None None -0.049(TCAP) N
S/P 0.5153 ambiguous 0.6282 pathogenic -0.241 Destabilizing 0.489 N 0.347 neutral D 0.535124693 None 0.001(TCAP) N
S/Q 0.5307 ambiguous 0.6387 pathogenic -0.283 Destabilizing 0.943 D 0.401 neutral None None None 0.013(TCAP) N
S/R 0.645 likely_pathogenic 0.8037 pathogenic -0.097 Destabilizing 0.701 D 0.369 neutral None None None 0.184(TCAP) N
S/T 0.1022 likely_benign 0.124 benign -0.149 Destabilizing 0.022 N 0.491 neutral N 0.462383036 None 0.082(TCAP) N
S/V 0.2787 likely_benign 0.3895 ambiguous -0.241 Destabilizing 0.153 N 0.399 neutral None None None 0.001(TCAP) N
S/W 0.6193 likely_pathogenic 0.7448 pathogenic -1.074 Destabilizing 0.995 D 0.481 neutral None None None 0.277(TCAP) N
S/Y 0.3626 ambiguous 0.4987 ambiguous -0.763 Destabilizing 0.975 D 0.434 neutral D 0.612281533 None 0.422(TCAP) 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.