Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC238937;938;939 chr2:178799689;178799688;178799687chr2:179664416;179664415;179664414
N2AB238937;938;939 chr2:178799689;178799688;178799687chr2:179664416;179664415;179664414
N2A238937;938;939 chr2:178799689;178799688;178799687chr2:179664416;179664415;179664414
N2B238937;938;939 chr2:178799689;178799688;178799687chr2:179664416;179664415;179664414
Novex-1238937;938;939 chr2:178799689;178799688;178799687chr2:179664416;179664415;179664414
Novex-2238937;938;939 chr2:178799689;178799688;178799687chr2:179664416;179664415;179664414
Novex-3238937;938;939 chr2:178799689;178799688;178799687chr2:179664416;179664415;179664414

Information

  • RefSeq wild type amino acid: E
  • RefSeq wild type transcript codon: GAG
  • RefSeq wild type template codon: CTC

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
E/Q None None None N None 0.218 None Peddareddygari (2022) None LGMD comp het with Q466R (in cis) None None Segregation analysis in single LGMD family, co-segregates with condition in affected mother and son, absent in unaffected son, co-inherited with Q466R None None None None None None None None None None None

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
E/A 0.6201 likely_pathogenic 0.5855 pathogenic None None None None None None N 0.500310934 None None
E/C 0.9894 likely_pathogenic 0.9865 pathogenic None None None None None None None None None None
E/D 0.5897 likely_pathogenic 0.4775 ambiguous None None None None None None N 0.502277555 None None
E/F 0.9887 likely_pathogenic 0.9864 pathogenic None None None None None None None None None None
E/G 0.6297 likely_pathogenic 0.6063 pathogenic None None None None None None N 0.503939783 None None
E/H 0.9257 likely_pathogenic 0.9053 pathogenic None None None None None None None None None None
E/I 0.9476 likely_pathogenic 0.9405 pathogenic None None None None None None None None None None
E/K 0.6494 likely_pathogenic 0.6372 pathogenic None None None None None None N 0.497589039 None None
E/L 0.9437 likely_pathogenic 0.9331 pathogenic None None None None None None None None None None
E/M 0.9387 likely_pathogenic 0.9247 pathogenic None None None None None None None None None None
E/N 0.8372 likely_pathogenic 0.7846 pathogenic None None None None None None None None None None
E/P 0.9538 likely_pathogenic 0.9236 pathogenic None None None None None None None None None None
E/Q 0.4499 ambiguous 0.3966 ambiguous None None None None None None N 0.503652051 None None
E/R 0.7581 likely_pathogenic 0.7391 pathogenic None None None None None None None None None None
E/S 0.702 likely_pathogenic 0.6425 pathogenic None None None None None None None None None None
E/T 0.7808 likely_pathogenic 0.7383 pathogenic None None None None None None None None None None
E/V 0.8323 likely_pathogenic 0.81 pathogenic None None None None None None N 0.503184312 None None
E/W 0.9958 likely_pathogenic 0.995 pathogenic None None None None None None None None None None
E/Y 0.979 likely_pathogenic 0.9751 pathogenic None None None None None None None None None None

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.