Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 466 | 1621;1622;1623 | chr2:178794401;178794400;178794399 | chr2:179659128;179659127;179659126 |
| N2AB | 466 | 1621;1622;1623 | chr2:178794401;178794400;178794399 | chr2:179659128;179659127;179659126 |
| N2A | 466 | 1621;1622;1623 | chr2:178794401;178794400;178794399 | chr2:179659128;179659127;179659126 |
| N2B | 466 | 1621;1622;1623 | chr2:178794401;178794400;178794399 | chr2:179659128;179659127;179659126 |
| Novex-1 | 466 | 1621;1622;1623 | chr2:178794401;178794400;178794399 | chr2:179659128;179659127;179659126 |
| Novex-2 | 466 | 1621;1622;1623 | chr2:178794401;178794400;178794399 | chr2:179659128;179659127;179659126 |
| Novex-3 | 466 | 1621;1622;1623 | chr2:178794401;178794400;178794399 | chr2:179659128;179659127;179659126 |
Information
- RefSeq wild type amino acid: Q
- RefSeq wild type transcript codon: CAG
- RefSeq wild type template codon: GTC
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/P | rs150282120  |
None | None | N | None | 0.431 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 | |
| Q/P | rs150282120 |
None | None | N | None | 0.431 | None | gnomAD-4.0.0 | 1.23911E-06 | None | None | None | None | None | 2.66873E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 | |
| Q/R | rs150282120 |
None | None | N | None | 0.199 | None | gnomAD-2.1.1 | 2.39E-05 | None | None | None | None | None | 3.69094E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 | |
| Q/R | rs150282120 |
None | None | N | None | 0.199 | None | gnomAD-3.1.2 | 3.28E-05 | None | None | None | None | None | 1.20587E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 | |
| Q/R | rs150282120 |
None | None | N | None | 0.199 | None |
Peddareddygari (2022)
| None |
LGMD 
|
comp het with E238Q (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 E238Q | None | None | None | None | None | None | None | None | None | None | None | |
| Q/R | rs150282120 |
None | None | N | None | 0.199 | None | gnomAD-4.0.0 | 6.19554E-06 | None | None | None | None | None | 1.33437E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1256 | likely_benign | 0.1289 | benign | None | None | None | None | None | None | None | None | None | None | |
| Q/C | 0.6387 | likely_pathogenic | 0.7021 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| Q/D | 0.2063 | likely_benign | 0.2099 | benign | None | None | None | None | None | None | None | None | None | None | |
| Q/E | 0.069 | likely_benign | 0.0711 | benign | None | None | None | None | None | None | N | 0.440032691 | None | None | |
| Q/F | 0.5818 | likely_pathogenic | 0.6194 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| Q/G | 0.1834 | likely_benign | 0.1768 | benign | None | None | None | None | None | None | None | None | None | None | |
| Q/H | 0.1497 | likely_benign | 0.1696 | benign | None | None | None | None | None | None | N | 0.485701203 | None | None | |
| Q/I | 0.2475 | likely_benign | 0.2716 | benign | None | None | None | None | None | None | None | None | None | None | |
| Q/K | 0.0797 | likely_benign | 0.0831 | benign | None | None | None | None | None | None | N | 0.442165431 | None | None | |
| Q/L | 0.1041 | likely_benign | 0.1117 | benign | None | None | None | None | None | None | N | 0.485701203 | None | None | |
| Q/M | 0.2612 | likely_benign | 0.2783 | benign | None | None | None | None | None | None | None | None | None | None | |
| Q/N | 0.1853 | likely_benign | 0.1939 | benign | None | None | None | None | None | None | None | None | None | None | |
| Q/P | 0.0969 | likely_benign | 0.0992 | benign | None | None | None | None | None | None | N | 0.485922412 | None | None | |
| Q/R | 0.1025 | likely_benign | 0.1058 | benign | None | None | None | None | None | None | N | 0.484120812 | None | None | |
| Q/S | 0.1858 | likely_benign | 0.1888 | benign | None | None | None | None | None | None | None | None | None | None | |
| Q/T | 0.1258 | likely_benign | 0.1321 | benign | None | None | None | None | None | None | None | None | None | None | |
| Q/V | 0.1651 | likely_benign | 0.1758 | benign | None | None | None | None | None | None | None | None | None | None | |
| Q/W | 0.4692 | ambiguous | 0.4773 | ambiguous | None | None | None | None | None | None | None | None | None | None | |
| Q/Y | 0.3745 | ambiguous | 0.4038 | ambiguous | 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.