Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34961 | 105106;105107;105108 | chr2:178531734;178531733;178531732 | chr2:179396461;179396460;179396459 |
| N2AB | 33320 | 100183;100184;100185 | chr2:178531734;178531733;178531732 | chr2:179396461;179396460;179396459 |
| N2A | 32393 | 97402;97403;97404 | chr2:178531734;178531733;178531732 | chr2:179396461;179396460;179396459 |
| N2B | 25896 | 77911;77912;77913 | chr2:178531734;178531733;178531732 | chr2:179396461;179396460;179396459 |
| Novex-1 | 26021 | 78286;78287;78288 | chr2:178531734;178531733;178531732 | chr2:179396461;179396460;179396459 |
| Novex-2 | 26088 | 78487;78488;78489 | chr2:178531734;178531733;178531732 | chr2:179396461;179396460;179396459 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs934181908  |
None | 0.999 | N | 0.681 | 0.612 | 0.372446077551 | gnomAD-4.0.0 | 6.8414E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99399E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -2.85 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/C | 0.988 | likely_pathogenic | 0.994 | pathogenic | -1.633 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.584554446 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.697 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.461 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/G | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -3.293 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/H | 0.997 | likely_pathogenic | 0.9977 | pathogenic | -2.27 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/I | 0.9468 | likely_pathogenic | 0.9737 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.534569415 | None | None | N |
| F/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.237 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| F/L | 0.9893 | likely_pathogenic | 0.9951 | pathogenic | -1.368 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | N | 0.421464835 | None | None | N |
| F/M | 0.9648 | likely_pathogenic | 0.9781 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| F/N | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -2.906 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.88 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| F/Q | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.739 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| F/R | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -2.039 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| F/S | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -3.33 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.584554446 | None | None | N |
| F/T | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.974 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| F/V | 0.962 | likely_pathogenic | 0.9785 | pathogenic | -1.88 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.512992475 | None | None | N |
| F/W | 0.9662 | likely_pathogenic | 0.9772 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| F/Y | 0.7834 | likely_pathogenic | 0.8532 | pathogenic | -1.044 | Destabilizing | 0.999 | D | 0.641 | neutral | D | 0.55231392 | 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.