Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8683 | 26272;26273;26274 | chr2:178715139;178715138;178715137 | chr2:179579866;179579865;179579864 |
| N2AB | 8366 | 25321;25322;25323 | chr2:178715139;178715138;178715137 | chr2:179579866;179579865;179579864 |
| N2A | 7439 | 22540;22541;22542 | chr2:178715139;178715138;178715137 | chr2:179579866;179579865;179579864 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs932810095  |
None | 0.982 | N | 0.59 | 0.601 | 0.612687967795 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs932810095 |
None | 0.982 | N | 0.59 | 0.601 | 0.612687967795 | gnomAD-4.0.0 | 4.33812E-06 | None | None | None | None | N | None | 8.01089E-05 | 1.66717E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs932810095 |
-1.147 | 0.098 | N | 0.422 | 0.143 | 0.338110398507 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.34E-05 | 0 |
| L/V | rs932810095 |
-1.147 | 0.098 | N | 0.422 | 0.143 | 0.338110398507 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/V | rs932810095 |
-1.147 | 0.098 | N | 0.422 | 0.143 | 0.338110398507 | gnomAD-4.0.0 | 1.67328E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.11915E-05 | 0 | 3.20225E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.7923 | likely_pathogenic | 0.7776 | pathogenic | -2.055 | Highly Destabilizing | 0.981 | D | 0.498 | neutral | None | None | None | None | N |
| L/C | 0.832 | likely_pathogenic | 0.833 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| L/D | 0.9936 | likely_pathogenic | 0.9926 | pathogenic | -2.195 | Highly Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| L/E | 0.9489 | likely_pathogenic | 0.9402 | pathogenic | -1.937 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | N |
| L/F | 0.3821 | ambiguous | 0.3875 | ambiguous | -1.239 | Destabilizing | 0.982 | D | 0.59 | neutral | N | 0.511151915 | None | None | N |
| L/G | 0.952 | likely_pathogenic | 0.9456 | pathogenic | -2.57 | Highly Destabilizing | 0.997 | D | 0.752 | deleterious | None | None | None | None | N |
| L/H | 0.8857 | likely_pathogenic | 0.8785 | pathogenic | -1.945 | Destabilizing | 0.999 | D | 0.754 | deleterious | D | 0.555451501 | None | None | N |
| L/I | 0.0733 | likely_benign | 0.0707 | benign | -0.555 | Destabilizing | 0.004 | N | 0.248 | neutral | N | 0.450214448 | None | None | N |
| L/K | 0.9109 | likely_pathogenic | 0.8948 | pathogenic | -1.484 | Destabilizing | 0.917 | D | 0.692 | prob.neutral | None | None | None | None | N |
| L/M | 0.1717 | likely_benign | 0.1773 | benign | -0.527 | Destabilizing | 0.957 | D | 0.636 | neutral | None | None | None | None | N |
| L/N | 0.9476 | likely_pathogenic | 0.9383 | pathogenic | -1.978 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| L/P | 0.9435 | likely_pathogenic | 0.9354 | pathogenic | -1.039 | Destabilizing | 0.999 | D | 0.775 | deleterious | D | 0.537258341 | None | None | N |
| L/Q | 0.7881 | likely_pathogenic | 0.7753 | pathogenic | -1.736 | Destabilizing | 0.998 | D | 0.721 | prob.delet. | None | None | None | None | N |
| L/R | 0.865 | likely_pathogenic | 0.8468 | pathogenic | -1.45 | Destabilizing | 0.997 | D | 0.708 | prob.delet. | D | 0.543841706 | None | None | N |
| L/S | 0.9331 | likely_pathogenic | 0.9307 | pathogenic | -2.624 | Highly Destabilizing | 0.997 | D | 0.671 | neutral | None | None | None | None | N |
| L/T | 0.8127 | likely_pathogenic | 0.7967 | pathogenic | -2.208 | Highly Destabilizing | 0.982 | D | 0.63 | neutral | None | None | None | None | N |
| L/V | 0.1192 | likely_benign | 0.1124 | benign | -1.039 | Destabilizing | 0.098 | N | 0.422 | neutral | N | 0.49254386 | None | None | N |
| L/W | 0.7217 | likely_pathogenic | 0.7308 | pathogenic | -1.531 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| L/Y | 0.7938 | likely_pathogenic | 0.8017 | pathogenic | -1.207 | Destabilizing | 0.946 | D | 0.663 | neutral | 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.