Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1034 | 3325;3326;3327 | chr2:178782806;178782602;178782601 | chr2:179647533;179647329;179647328 |
| N2AB | 1034 | 3325;3326;3327 | chr2:178782806;178782602;178782601 | chr2:179647533;179647329;179647328 |
| N2A | 1034 | 3325;3326;3327 | chr2:178782806;178782602;178782601 | chr2:179647533;179647329;179647328 |
| N2B | 988 | 3187;3188;3189 | chr2:178782806;178782602;178782601 | chr2:179647533;179647329;179647328 |
| Novex-1 | 988 | 3187;3188;3189 | chr2:178782806;178782602;178782601 | chr2:179647533;179647329;179647328 |
| Novex-2 | 988 | 3187;3188;3189 | chr2:178782806;178782602;178782601 | chr2:179647533;179647329;179647328 |
| Novex-3 | 1034 | 3325;3326;3327 | chr2:178782806;178782602;178782601 | chr2:179647533;179647329;179647328 |
Information
- RefSeq wild type amino acid: V
- RefSeq wild type transcript codon: GTG
- RefSeq wild type template codon: CAC
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/A | rs374667907  |
None | None | N | None | None | None | gnomAD-2.1.1 | 4E-06 | None | None | None | None | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 | |
| V/A | rs374667907 |
None | None | N | None | None | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 | |
| V/A | rs374667907 |
None | None | N | None | None | None | gnomAD-4.0.0 | 2.56174E-06 | None | None | None | None | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78421E-06 | 0 | 0 | |
| V/G | rs374667907 |
None | None | N | None | None | None | gnomAD-4.0.0 | 1.59108E-06 | None | None | None | None | None | 5.65291E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 | |
| V/M | rs142951505 |
None | None | N | None | 0.302 | None | gnomAD-2.1.1 | 8.16159E-04 | None | None | None | None | None | 0 | 2.5418E-04 | None | 0 | 0 | None | 6.8614E-04 | None | 1.91235E-03 | 1.12232E-03 | 1.1139E-03 | |
| V/M | rs142951505 |
None | None | N | None | 0.302 | None | gnomAD-3.1.2 | 6.11126E-04 | None | None | None | None | None | 1.93069E-04 | 1.3089E-04 | 0 | 0 | 0 | None | 1.31827E-03 | 0 | 9.55377E-04 | 6.21118E-04 | 4.78011E-04 | |
| V/M | rs142951505 |
None | None | N | None | 0.302 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 1E-03 | None | |
| V/M | rs142951505 |
None | None | N | None | 0.302 | None |
Vasli (2012)
| None |
MD 
|
comp het with A18983T | None | None | Genetic analysis of MD patients; unknown inheritance (n = 2, 2 affected (total 3)); variant prioritisation; comp het with A18983T | None | None | None | None | None | None | None | None | None | None | None | |
| V/M | rs142951505 |
None | None | N | None | 0.302 | None | gnomAD-4.0.0 | 9.55558E-04 | None | None | None | None | None | 1.33358E-04 | 2.33287E-04 | None | 0 | 0 | None | 2.56194E-03 | 1.96618E-04 | 1.06711E-03 | 6.92201E-04 | 4.8097E-04 |
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 | 0.1122 | likely_benign | 0.1038 | benign | None | None | None | None | None | None | N | 0.487713684 | None | None | |
| V/C | 0.8062 | likely_pathogenic | 0.7953 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| V/D | 0.353 | ambiguous | 0.3425 | ambiguous | None | None | None | None | None | None | None | None | None | None | |
| V/E | 0.275 | likely_benign | 0.2708 | benign | None | None | None | None | None | None | N | 0.491695867 | None | None | |
| V/F | 0.2422 | likely_benign | 0.231 | benign | None | None | None | None | None | None | None | None | None | None | |
| V/G | 0.1558 | likely_benign | 0.1519 | benign | None | None | None | None | None | None | N | 0.492537428 | None | None | |
| V/H | 0.6435 | likely_pathogenic | 0.629 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| V/I | 0.1143 | likely_benign | 0.112 | benign | None | None | None | None | None | None | None | None | None | None | |
| V/K | 0.4016 | ambiguous | 0.3838 | ambiguous | None | None | None | None | None | None | None | None | None | None | |
| V/L | 0.2649 | likely_benign | 0.2517 | benign | None | None | None | None | None | None | N | 0.492537428 | None | None | |
| V/M | 0.2081 | likely_benign | 0.1993 | benign | None | None | None | None | None | None | N | 0.49440826 | None | None | |
| V/N | 0.2698 | likely_benign | 0.2574 | benign | None | None | None | None | None | None | None | None | None | None | |
| V/P | 0.3668 | ambiguous | 0.3515 | ambiguous | None | None | None | None | None | None | None | None | None | None | |
| V/Q | 0.3538 | ambiguous | 0.342 | ambiguous | None | None | None | None | None | None | None | None | None | None | |
| V/R | 0.3949 | ambiguous | 0.3707 | ambiguous | None | None | None | None | None | None | None | None | None | None | |
| V/S | 0.1734 | likely_benign | 0.1631 | benign | None | None | None | None | None | None | None | None | None | None | |
| V/T | 0.1968 | likely_benign | 0.1879 | benign | None | None | None | None | None | None | None | None | None | None | |
| V/W | 0.8945 | likely_pathogenic | 0.8828 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| V/Y | 0.614 | likely_pathogenic | 0.5981 | 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.