2017/02/05

200,000 disease causing genetic mutations known in the human DNA

About 10,000 new genetic mutations discovered annually in the human DNA


"Study shows 400,000 children with (new) developmental disorders born each year globally"

There's no doubt that human genome is rapidly degrading. The human gene mutation database proves this fact. Conclusions are obvious:

- Human genome is very young, only a few thousands of years.
- Rapidly increasing number of mutations form a logarithmic curve, which means that mutations make the genome weaker and new mutations arise even rapidly than before.
- Not a single beneficial mutation is observed. This means evolutionary theory is a major lie.
- Scientists urgently need efficient gene editing techniques. That's why they are focusing on CRISPR/Cas9 and other techniques.

Table
Description
Total entries
197952
Gene symbol
The gene description, gene symbol (as recommended by the HUGO Nomenclature Committee) and chromosomal location is recorded for each gene. In cases where a gene symbol has not yet been made official, a provisional symbol has been adopted which is denoted by lower-case letters.
7791
cDNA sequence
cDNA reference sequences are provided, numbered by codon.
8046
Genomic coordinates
Genomic (chromosomal) coordinates have been calculated for missense/nonsense, splicing, regulatory, small deletions, small insertions and small indels.
174270
HGVS nomenclature
Standard HGVS nomenclature has been obtained for missense/nonsense, splicing, regulatory, small deletions, small insertions and small indels.
175389
Missense/nonsense
Single base-pair substitutions in coding regions are presented in terms of a triplet change with an additional flanking base included if the mutated base lies in either the first or third position in the triplet.
111135
Splicing
Mutations with consequences for mRNA splicing are presented in brief with information specifying the relative position of the lesion with respect to a numbered intron donor or acceptor splice site. Positions given as positive integers refer to a 3' (downstream) location, negative integers refer to a 5' (upstream) location.
17924
Regulatory
Substitutions causing regulatory abnormalities are logged in with thirty nucleotides flanking the site of the mutation on both sides. The location of the mutation relative to the transcriptional initiation site, initiaton codon, polyadenylation site or termination codon is given.
3725
Small deletions
Micro-deletions (20 bp or less) are presented in terms of the deleted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. The numbered codon is preceded in the given sequence by the caret character (^).
29381
Small insertions
Micro-insertions (20 bp or less) are presented in terms of the inserted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. The numbered codon is preceded in the given sequence by the caret character (^).
12245
Small indels
Micro-indels (20 bp or less) are presented in terms of the deleted/inserted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. The numbered codon is preceded in the given sequence by the caret character (^).
2784
Gross deletions
Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.
14781
Gross insertions
Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.
3670
Complex rearrangements
Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.
1802
Repeat variations
Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.
505