Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33572 | 100939;100940;100941 | chr2:178536033;178536032;178536031 | chr2:179400760;179400759;179400758 |
| N2AB | 31931 | 96016;96017;96018 | chr2:178536033;178536032;178536031 | chr2:179400760;179400759;179400758 |
| N2A | 31004 | 93235;93236;93237 | chr2:178536033;178536032;178536031 | chr2:179400760;179400759;179400758 |
| N2B | 24507 | 73744;73745;73746 | chr2:178536033;178536032;178536031 | chr2:179400760;179400759;179400758 |
| Novex-1 | 24632 | 74119;74120;74121 | chr2:178536033;178536032;178536031 | chr2:179400760;179400759;179400758 |
| Novex-2 | 24699 | 74320;74321;74322 | chr2:178536033;178536032;178536031 | chr2:179400760;179400759;179400758 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1357094378  |
None | 0.989 | D | 0.658 | 0.775 | 0.480123561213 | gnomAD-2.1.1 | 4.4E-06 | None | None | None | None | N | None | 0 | 3.06E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1357094378 |
None | 0.989 | D | 0.658 | 0.775 | 0.480123561213 | gnomAD-4.0.0 | 1.67616E-06 | None | None | None | None | N | None | 0 | 2.40489E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1691357196 |
None | 0.969 | N | 0.698 | 0.663 | 0.53563189239 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| A/V | rs1691357196 |
None | 0.969 | N | 0.698 | 0.663 | 0.53563189239 | gnomAD-4.0.0 | 6.57281E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9194 | likely_pathogenic | 0.9012 | pathogenic | -1.547 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| A/D | 0.9994 | likely_pathogenic | 0.9987 | pathogenic | -2.553 | Highly Destabilizing | 0.661 | D | 0.574 | neutral | D | 0.629714036 | None | None | N |
| A/E | 0.9986 | likely_pathogenic | 0.9965 | pathogenic | -2.37 | Highly Destabilizing | 0.996 | D | 0.747 | deleterious | None | None | None | None | N |
| A/F | 0.9902 | likely_pathogenic | 0.9842 | pathogenic | -0.777 | Destabilizing | 0.997 | D | 0.854 | deleterious | None | None | None | None | N |
| A/G | 0.6108 | likely_pathogenic | 0.5679 | pathogenic | -1.761 | Destabilizing | 0.298 | N | 0.63 | neutral | D | 0.562214843 | None | None | N |
| A/H | 0.9993 | likely_pathogenic | 0.9985 | pathogenic | -1.936 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/I | 0.9539 | likely_pathogenic | 0.9183 | pathogenic | -0.161 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| A/K | 0.9997 | likely_pathogenic | 0.9993 | pathogenic | -1.284 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/L | 0.9151 | likely_pathogenic | 0.8644 | pathogenic | -0.161 | Destabilizing | 0.977 | D | 0.768 | deleterious | None | None | None | None | N |
| A/M | 0.9706 | likely_pathogenic | 0.9527 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/N | 0.9987 | likely_pathogenic | 0.9974 | pathogenic | -1.587 | Destabilizing | 0.987 | D | 0.832 | deleterious | None | None | None | None | N |
| A/P | 0.9987 | likely_pathogenic | 0.9967 | pathogenic | -0.509 | Destabilizing | 0.999 | D | 0.822 | deleterious | D | 0.629512231 | None | None | N |
| A/Q | 0.9972 | likely_pathogenic | 0.9944 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/R | 0.998 | likely_pathogenic | 0.996 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/S | 0.716 | likely_pathogenic | 0.6778 | pathogenic | -1.986 | Destabilizing | 0.21 | N | 0.353 | neutral | D | 0.580818375 | None | None | N |
| A/T | 0.9263 | likely_pathogenic | 0.8736 | pathogenic | -1.686 | Destabilizing | 0.989 | D | 0.658 | neutral | D | 0.628906819 | None | None | N |
| A/V | 0.8092 | likely_pathogenic | 0.7187 | pathogenic | -0.509 | Destabilizing | 0.969 | D | 0.698 | prob.neutral | N | 0.507290801 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.429 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/Y | 0.9977 | likely_pathogenic | 0.9964 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.859 | deleterious | 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.